esv3647439

Organism: Homo sapiens

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

Variant Calls:16
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: 171 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):24,701,799-24,701,799

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3647439	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
esv3647439	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	25,097,766	25,097,766

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16394314	sva insertion	SAMN00262975	Sequencing	Read depth and paired-end mapping	Heterozygous	3,180
essv16394315	sva insertion	SAMN00262986	Sequencing	Read depth and paired-end mapping	Heterozygous	3,389
essv16394316	sva insertion	SAMN00630244	Sequencing	Read depth and paired-end mapping	Heterozygous	2,890
essv16394317	sva insertion	SAMN00779964	Sequencing	Read depth and paired-end mapping	Heterozygous	3,151
essv16394318	sva insertion	SAMN00779978	Sequencing	Read depth and paired-end mapping	Heterozygous	3,207
essv16394319	sva insertion	SAMN00779982	Sequencing	Read depth and paired-end mapping	Heterozygous	3,199
essv16394320	sva insertion	SAMN01036709	Sequencing	Read depth and paired-end mapping	Heterozygous	3,156
essv16394321	sva insertion	SAMN01036718	Sequencing	Read depth and paired-end mapping	Heterozygous	3,203
essv16394322	sva insertion	SAMN01090865	Sequencing	Read depth and paired-end mapping	Heterozygous	2,879
essv16394323	sva insertion	SAMN01090818	Sequencing	Read depth and paired-end mapping	Heterozygous	3,288
essv16394324	sva insertion	SAMN00001024	Sequencing	Read depth and paired-end mapping	Heterozygous	3,270
essv16394325	sva insertion	SAMN00000549	Sequencing	Read depth and paired-end mapping	Heterozygous	3,339
essv16394326	sva insertion	SAMN00001122	Sequencing	Read depth and paired-end mapping	Heterozygous	3,250
essv16394327	sva insertion	SAMN00001150	Sequencing	Read depth and paired-end mapping	Heterozygous	3,142
essv16394328	sva insertion	SAMN00001184	Sequencing	Read depth and paired-end mapping	Heterozygous	2,973
essv16394329	sva insertion	SAMN00007973	Sequencing	Read depth and paired-end mapping	Heterozygous	2,802

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16394314	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394315	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394316	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394317	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394318	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394319	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394320	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394321	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394322	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394323	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394324	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394325	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394326	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394327	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394328	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394329	Remapped	Perfect	NC_000022.11:g.247 01799_24701800ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,701,799	24,701,799
essv16394314	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394315	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394316	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394317	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394318	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394319	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394320	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394321	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394322	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394323	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394324	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394325	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394326	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394327	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394328	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766
essv16394329	Submitted genomic		NC_000022.10:g.250 97766_25097767ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,097,766	25,097,766

dbVar

Database of genomic structural variation

esv3647439

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.