esv3646007

Organism: Homo sapiens

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

Variant Calls:32
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: 100 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):48,961,703-48,961,703

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3646007	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
esv3646007	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	47,578,240	47,578,240

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16198842	sva insertion	SAMN00004631	Sequencing	Read depth and paired-end mapping	Heterozygous	2,737
essv16198843	sva insertion	SAMN00006362	Sequencing	Read depth and paired-end mapping	Heterozygous	2,917
essv16198844	sva insertion	SAMN00006565	Sequencing	Read depth and paired-end mapping	Heterozygous	2,596
essv16198845	sva insertion	SAMN00006583	Sequencing	Read depth and paired-end mapping	Heterozygous	2,480
essv16198846	sva insertion	SAMN00630256	Sequencing	Read depth and paired-end mapping	Heterozygous	2,874
essv16198847	sva insertion	SAMN00249796	Sequencing	Read depth and paired-end mapping	Heterozygous	2,888
essv16198848	sva insertion	SAMN00255151	Sequencing	Read depth and paired-end mapping	Heterozygous	2,737
essv16198849	sva insertion	SAMN01761362	Sequencing	Read depth and paired-end mapping	Heterozygous	2,869
essv16198850	sva insertion	SAMN01090936	Sequencing	Read depth and paired-end mapping	Heterozygous	2,688
essv16198851	sva insertion	SAMN01090937	Sequencing	Read depth and paired-end mapping	Heterozygous	2,952
essv16198852	sva insertion	SAMN01090949	Sequencing	Read depth and paired-end mapping	Heterozygous	2,883
essv16198853	sva insertion	SAMN01761503	Sequencing	Read depth and paired-end mapping	Heterozygous	2,838
essv16198854	sva insertion	SAMN01090993	Sequencing	Read depth and paired-end mapping	Heterozygous	2,820
essv16198855	sva insertion	SAMN01761579	Sequencing	Read depth and paired-end mapping	Heterozygous	2,785
essv16198856	sva insertion	SAMN01761534	Sequencing	Read depth and paired-end mapping	Heterozygous	2,929
essv16198857	sva insertion	SAMN01761582	Sequencing	Read depth and paired-end mapping	Heterozygous	2,801
essv16198858	sva insertion	SAMN00801126	Sequencing	Read depth and paired-end mapping	Heterozygous	2,868
essv16198859	sva insertion	SAMN00000432	Sequencing	Read depth and paired-end mapping	Heterozygous	2,863
essv16198860	sva insertion	SAMN00000460	Sequencing	Read depth and paired-end mapping	Heterozygous	2,819
essv16198861	sva insertion	SAMN00000493	Sequencing	Read depth and paired-end mapping	Heterozygous	2,740
essv16198862	sva insertion	SAMN00001659	Sequencing	Read depth and paired-end mapping	Heterozygous	2,441
essv16198863	sva insertion	SAMN00000495	Sequencing	Read depth and paired-end mapping	Heterozygous	2,785
essv16198864	sva insertion	SAMN00001035	Sequencing	Read depth and paired-end mapping	Heterozygous	3,108
essv16198865	sva insertion	SAMN00000515	Sequencing	Read depth and paired-end mapping	Heterozygous	2,745
essv16198866	sva insertion	SAMN00000520	Sequencing	Read depth and paired-end mapping	Heterozygous	2,779
essv16198867	sva insertion	SAMN00000525	Sequencing	Read depth and paired-end mapping	Heterozygous	2,755
essv16198868	sva insertion	SAMN00000528	Sequencing	Read depth and paired-end mapping	Heterozygous	2,846
essv16198869	sva insertion	SAMN00007746	Sequencing	Read depth and paired-end mapping	Heterozygous	2,697
essv16198870	sva insertion	SAMN00007904	Sequencing	Read depth and paired-end mapping	Heterozygous	2,791
essv16198871	sva insertion	SAMN00007909	Sequencing	Read depth and paired-end mapping	Heterozygous	2,823
essv16198872	sva insertion	SAMN00007949	Sequencing	Read depth and paired-end mapping	Heterozygous	2,258
essv16198873	sva insertion	SAMN00007970	Sequencing	Read depth and paired-end mapping	Heterozygous	2,916

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16198842	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198843	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198844	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198845	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198846	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198847	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198848	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198849	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198850	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198851	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198852	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198853	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198854	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198855	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198856	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198857	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198858	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198859	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198860	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198861	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198862	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198863	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198864	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198865	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198866	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198867	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198868	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198869	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198870	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198871	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198872	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198873	Remapped	Perfect	NC_000020.11:g.489 61703_48961704ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	48,961,703	48,961,703
essv16198842	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198843	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198844	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198845	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198846	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198847	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198848	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198849	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198850	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198851	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198852	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198853	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198854	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198855	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198856	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198857	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198858	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198859	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198860	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198861	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198862	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198863	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198864	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198865	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198866	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198867	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198868	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198869	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198870	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198871	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198872	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240
essv16198873	Submitted genomic		NC_000020.10:g.475 78240_47578241ins?	GRCh37 (hg19)		NC_000020.10	Chr20	47,578,240	47,578,240

dbVar

Database of genomic structural variation

esv3646007

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.