esv3647078

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:38
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):1000 Genomes Project Consortium et al. 2015

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 293 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):42,084,984-42,084,984

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3647078	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
esv3647078	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	43,505,094	43,505,094

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16324735	line1 insertion	SAMN00262972	Sequencing	Read depth and paired-end mapping	Heterozygous	3,149
essv16324736	line1 insertion	SAMN00630200	Sequencing	Read depth and paired-end mapping	Heterozygous	3,059
essv16324737	line1 insertion	SAMN00630204	Sequencing	Read depth and paired-end mapping	Heterozygous	3,157
essv16324738	line1 insertion	SAMN00262977	Sequencing	Read depth and paired-end mapping	Heterozygous	3,257
essv16324739	line1 insertion	SAMN00262983	Sequencing	Read depth and paired-end mapping	Heterozygous	3,036
essv16324740	line1 insertion	SAMN00262984	Sequencing	Read depth and paired-end mapping	Heterozygous	3,090
essv16324741	line1 insertion	SAMN00630221	Sequencing	Read depth and paired-end mapping	Heterozygous	3,136
essv16324742	line1 insertion	SAMN00779930	Sequencing	Read depth and paired-end mapping	Heterozygous	3,244
essv16324743	line1 insertion	SAMN01091045	Sequencing	Read depth and paired-end mapping	Heterozygous	3,089
essv16324744	line1 insertion	SAMN00630247	Sequencing	Read depth and paired-end mapping	Heterozygous	2,776
essv16324745	line1 insertion	SAMN00630253	Sequencing	Read depth and paired-end mapping	Heterozygous	3,391
essv16324746	line1 insertion	SAMN01091057	Sequencing	Read depth and paired-end mapping	Heterozygous	2,820
essv16324747	line1 insertion	SAMN00779940	Sequencing	Read depth and paired-end mapping	Heterozygous	3,140
essv16324748	line1 insertion	SAMN01036707	Sequencing	Read depth and paired-end mapping	Heterozygous	3,285
essv16324749	line1 insertion	SAMN01036719	Sequencing	Read depth and paired-end mapping	Heterozygous	3,186
essv16324750	line1 insertion	SAMN01090870	Sequencing	Read depth and paired-end mapping	Heterozygous	3,187
essv16324751	line1 insertion	SAMN01761284	Sequencing	Read depth and paired-end mapping	Heterozygous	3,248
essv16324752	line1 insertion	SAMN01090891	Sequencing	Read depth and paired-end mapping	Heterozygous	3,001
essv16324753	line1 insertion	SAMN01761247	Sequencing	Read depth and paired-end mapping	Heterozygous	3,183
essv16324754	line1 insertion	SAMN01090844	Sequencing	Read depth and paired-end mapping	Heterozygous	2,911
essv16324755	line1 insertion	SAMN01761319	Sequencing	Read depth and paired-end mapping	Heterozygous	3,229
essv16324756	line1 insertion	SAMN01761320	Sequencing	Read depth and paired-end mapping	Heterozygous	3,295
essv16324757	line1 insertion	SAMN01090802	Sequencing	Read depth and paired-end mapping	Heterozygous	2,849
essv16324758	line1 insertion	SAMN01036788	Sequencing	Read depth and paired-end mapping	Heterozygous	3,166
essv16324759	line1 insertion	SAMN01761345	Sequencing	Read depth and paired-end mapping	Heterozygous	2,565
essv16324760	line1 insertion	SAMN01090829	Sequencing	Read depth and paired-end mapping	Heterozygous	2,716
essv16324761	line1 insertion	SAMN00001583	Sequencing	Read depth and paired-end mapping	Heterozygous	3,337
essv16324762	line1 insertion	SAMN00001586	Sequencing	Read depth and paired-end mapping	Heterozygous	3,256
essv16324763	line1 insertion	SAMN00000476	Sequencing	Read depth and paired-end mapping	Heterozygous	3,432
essv16324764	line1 insertion	SAMN00000478	Sequencing	Read depth and paired-end mapping	Heterozygous	3,327
essv16324765	line1 insertion	SAMN00001045	Sequencing	Read depth and paired-end mapping	Heterozygous	3,184
essv16324766	line1 insertion	SAMN00001153	Sequencing	Read depth and paired-end mapping	Heterozygous	3,021
essv16324767	line1 insertion	SAMN00001158	Sequencing	Read depth and paired-end mapping	Heterozygous	3,001
essv16324768	line1 insertion	SAMN00001166	Sequencing	Read depth and paired-end mapping	Heterozygous	2,448
essv16324769	line1 insertion	SAMN00001174	Sequencing	Read depth and paired-end mapping	Heterozygous	2,734
essv16324770	line1 insertion	SAMN00007837	Sequencing	Read depth and paired-end mapping	Heterozygous	2,359
essv16324771	line1 insertion	SAMN00007870	Sequencing	Read depth and paired-end mapping	Heterozygous	2,441
essv16324772	line1 insertion	SAMN00006627	Sequencing	Read depth and paired-end mapping	Heterozygous	3,033

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16324735	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324736	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324737	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324738	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324739	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324740	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324741	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324742	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324743	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324744	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324745	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324746	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324747	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324748	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324749	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324750	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324751	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324752	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324753	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324754	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324755	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324756	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324757	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324758	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324759	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324760	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324761	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324762	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324763	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324764	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324765	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324766	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324767	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324768	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324769	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324770	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324771	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324772	Remapped	Perfect	NC_000021.9:g.4208 4984_42084985ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	42,084,984	42,084,984
essv16324735	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324736	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324737	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324738	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324739	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324740	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324741	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324742	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324743	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324744	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324745	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324746	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324747	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324748	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324749	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324750	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324751	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324752	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324753	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324754	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324755	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324756	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324757	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324758	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324759	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324760	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324761	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324762	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324763	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324764	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324765	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324766	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324767	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324768	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324769	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324770	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324771	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094
essv16324772	Submitted genomic		NC_000021.8:g.4350 5094_43505095ins?	GRCh37 (hg19)		NC_000021.8	Chr21	43,505,094	43,505,094

dbVar

Database of genomic structural variation

esv3647078

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.