esv3647440

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: 162 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):24,706,020-24,706,020

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3647440	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
esv3647440	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	25,101,987	25,101,987

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16394330	sva insertion	SAMN00262968	Sequencing	Read depth and paired-end mapping	Heterozygous	3,187
essv16394331	sva insertion	SAMN00630200	Sequencing	Read depth and paired-end mapping	Heterozygous	3,059
essv16394332	sva insertion	SAMN00630197	Sequencing	Read depth and paired-end mapping	Heterozygous	3,192
essv16394333	sva insertion	SAMN00263020	Sequencing	Read depth and paired-end mapping	Heterozygous	2,645
essv16394334	sva insertion	SAMN00779949	Sequencing	Read depth and paired-end mapping	Heterozygous	3,105
essv16394335	sva insertion	SAMN01036704	Sequencing	Read depth and paired-end mapping	Heterozygous	3,279
essv16394336	sva insertion	SAMN01036761	Sequencing	Read depth and paired-end mapping	Heterozygous	3,122
essv16394337	sva insertion	SAMN01761210	Sequencing	Read depth and paired-end mapping	Heterozygous	3,236
essv16394338	sva insertion	SAMN01036727	Sequencing	Read depth and paired-end mapping	Heterozygous	3,103
essv16394339	sva insertion	SAMN01036763	Sequencing	Read depth and paired-end mapping	Heterozygous	2,885
essv16394340	sva insertion	SAMN01036795	Sequencing	Read depth and paired-end mapping	Heterozygous	3,333
essv16394341	sva insertion	SAMN01090748	Sequencing	Read depth and paired-end mapping	Heterozygous	2,921
essv16394342	sva insertion	SAMN01036752	Sequencing	Read depth and paired-end mapping	Heterozygous	3,109
essv16394343	sva insertion	SAMN01761244	Sequencing	Read depth and paired-end mapping	Heterozygous	3,199
essv16394344	sva insertion	SAMN01761245	Sequencing	Read depth and paired-end mapping	Heterozygous	3,282
essv16394345	sva insertion	SAMN01761300	Sequencing	Read depth and paired-end mapping	Heterozygous	3,162
essv16394346	sva insertion	SAMN01090783	Sequencing	Read depth and paired-end mapping	Heterozygous	2,989
essv16394347	sva insertion	SAMN01761353	Sequencing	Read depth and paired-end mapping	Heterozygous	3,438
essv16394348	sva insertion	SAMN00001588	Sequencing	Read depth and paired-end mapping	Heterozygous	3,281
essv16394349	sva insertion	SAMN00000478	Sequencing	Read depth and paired-end mapping	Heterozygous	3,327
essv16394350	sva insertion	SAMN00001059	Sequencing	Read depth and paired-end mapping	Heterozygous	3,175
essv16394351	sva insertion	SAMN00000550	Sequencing	Read depth and paired-end mapping	Heterozygous	3,070
essv16394352	sva insertion	SAMN00001671	Sequencing	Read depth and paired-end mapping	Heterozygous	3,320
essv16394353	sva insertion	SAMN00001678	Sequencing	Read depth and paired-end mapping	Heterozygous	3,261
essv16394354	sva insertion	SAMN00001695	Sequencing	Read depth and paired-end mapping	Heterozygous	2,582
essv16394355	sva insertion	SAMN00001120	Sequencing	Read depth and paired-end mapping	Heterozygous	3,087
essv16394356	sva insertion	SAMN00001158	Sequencing	Read depth and paired-end mapping	Heterozygous	3,001
essv16394357	sva insertion	SAMN00001162	Sequencing	Read depth and paired-end mapping	Heterozygous	2,775
essv16394358	sva insertion	SAMN00001179	Sequencing	Read depth and paired-end mapping	Heterozygous	3,049
essv16394359	sva insertion	SAMN00001195	Sequencing	Read depth and paired-end mapping	Heterozygous	3,410
essv16394360	sva insertion	SAMN00007812	Sequencing	Read depth and paired-end mapping	Heterozygous	3,129
essv16394361	sva insertion	SAMN00007813	Sequencing	Read depth and paired-end mapping	Heterozygous	2,983

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16394330	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394331	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394332	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394333	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394334	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394335	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394336	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394337	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394338	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394339	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394340	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394341	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394342	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394343	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394344	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394345	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394346	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394347	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394348	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394349	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394350	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394351	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394352	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394353	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394354	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394355	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394356	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394357	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394358	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394359	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394360	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394361	Remapped	Perfect	NC_000022.11:g.247 06020_24706021ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	24,706,020	24,706,020
essv16394330	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394331	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394332	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394333	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394334	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394335	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394336	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394337	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394338	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394339	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394340	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394341	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394342	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394343	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394344	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394345	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394346	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394347	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394348	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394349	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394350	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394351	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394352	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394353	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394354	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394355	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394356	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394357	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394358	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394359	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394360	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987
essv16394361	Submitted genomic		NC_000022.10:g.251 01987_25101988ins?	GRCh37 (hg19)		NC_000022.10	Chr22	25,101,987	25,101,987

dbVar

Database of genomic structural variation

esv3647440

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.