esv3887494

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:28
Validation:Not tested
Clinical Assertions: No
Region Size:1

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 112 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):37,817,186-37,817,186

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3887494	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
esv3887494	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	38,213,193	38,213,193

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25086532	sva insertion	HG02255	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,880
essv25086533	sva insertion	HG02322	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,722
essv25086534	sva insertion	HG02568	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,026
essv25086535	sva insertion	HG02573	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,151
essv25086536	sva insertion	HG02594	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,073
essv25086537	sva insertion	HG02819	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,025
essv25086538	sva insertion	HG02982	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,258
essv25086539	sva insertion	HG03046	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,832
essv25086540	sva insertion	HG03054	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,343
essv25086541	sva insertion	HG03069	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,750
essv25086542	sva insertion	HG03077	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,244
essv25086543	sva insertion	HG03088	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,411
essv25086544	sva insertion	HG03133	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,119
essv25086545	sva insertion	HG03139	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,152
essv25086546	sva insertion	HG03163	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25086547	sva insertion	HG03246	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,863
essv25086548	sva insertion	HG03280	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,000
essv25086549	sva insertion	HG03458	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,820
essv25086550	sva insertion	HG03478	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,888
essv25086551	sva insertion	HG03558	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,190
essv25086552	sva insertion	NA19137	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,986
essv25086553	sva insertion	NA19201	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,189
essv25086554	sva insertion	NA19222	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,939
essv25086555	sva insertion	NA19248	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,978
essv25086556	sva insertion	NA19256	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,295
essv25086557	sva insertion	NA19328	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,114
essv25086558	sva insertion	NA19466	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,912
essv25086559	sva insertion	NA19701	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,831

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25086532	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086533	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086534	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086535	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086536	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086537	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086538	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086539	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086540	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086541	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086542	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086543	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086544	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086545	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086546	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086547	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086548	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086549	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086550	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086551	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086552	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086553	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086554	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086555	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086556	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086557	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086558	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086559	Remapped	Perfect	NC_000022.11:g.378 17186_37817187ins8 58	GRCh38.p12	First Pass	NC_000022.11	Chr22	37,817,186	37,817,186
essv25086532	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086533	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086534	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086535	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086536	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086537	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086538	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086539	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086540	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086541	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086542	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086543	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086544	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086545	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086546	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086547	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086548	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086549	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086550	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086551	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086552	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086553	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086554	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086555	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086556	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086557	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086558	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193
essv25086559	Submitted genomic		NC_000022.10:g.382 13193_38213194ins8 58	GRCh37 (hg19)		NC_000022.10	Chr22	38,213,193	38,213,193

dbVar

Database of genomic structural variation

esv3887494

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.