esv3889780

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:21
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: 407 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):112,073,444-112,073,444

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3889780	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
esv3889780	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	111,316,672	111,316,672

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25544208	sva insertion	HG00108	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,586
essv25544209	sva insertion	HG00119	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,595
essv25544210	sva insertion	HG00120	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,287
essv25544211	sva insertion	HG00130	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,127
essv25544212	sva insertion	HG00240	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,318
essv25544213	sva insertion	HG00257	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,385
essv25544214	sva insertion	HG00258	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,495
essv25544215	sva insertion	HG00280	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,559
essv25544216	sva insertion	HG01119	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,305
essv25544217	sva insertion	HG01125	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,606
essv25544218	sva insertion	HG01768	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,354
essv25544219	sva insertion	HG02649	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,474
essv25544220	sva insertion	NA12716	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,650
essv25544221	sva insertion	NA12749	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,519
essv25544222	sva insertion	NA12760	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,521
essv25544223	sva insertion	NA19434	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,500
essv25544224	sva insertion	NA20797	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,380
essv25544225	sva insertion	NA20806	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,619
essv25544226	sva insertion	NA20818	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,420
essv25544227	sva insertion	NA20882	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,336
essv25544228	sva insertion	NA20900	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,403

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25544208	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544209	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544210	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544211	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544212	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544213	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544214	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544215	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544216	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544217	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544218	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544219	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544220	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544221	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544222	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544223	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544224	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544225	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544226	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544227	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544228	Remapped	Perfect	NC_000023.11:g.112 073444_112073445in s1587	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,073,444	112,073,444
essv25544208	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544209	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544210	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544211	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544212	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544213	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544214	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544215	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544216	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544217	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544218	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544219	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544220	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544221	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544222	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544223	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544224	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544225	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544226	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544227	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672
essv25544228	Submitted genomic		NC_000023.10:g.111 316672_111316673in s1587	GRCh37 (hg19)		NC_000023.10	ChrX	111,316,672	111,316,672

dbVar

Database of genomic structural variation

esv3889780

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.