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dbVar

Database of genomic structural variation

esv3817560

Organism: Homo sapiens

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

Variant Calls:5
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: 422 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):27,458,496-27,458,496

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3817560	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	27,458,496	27,458,496
esv3817560	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	27,476,613	27,476,613

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16890769	delins	SAMN01096731	Sequencing	Read depth and paired-end mapping	Heterozygous	2,638
essv16890770	delins	SAMN01090949	Sequencing	Read depth and paired-end mapping	Heterozygous	2,883
essv16890771	delins	SAMN01096718	Sequencing	Read depth and paired-end mapping	Homozygous	2,496
essv16890772	delins	SAMN01091038	Sequencing	Read depth and paired-end mapping	Heterozygous	2,517
essv16890773	delins	SAMN01096777	Sequencing	Read depth and paired-end mapping	Heterozygous	2,589

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16890769	Remapped	Perfect	NC_000023.11:g.274 58496delins125	GRCh38.p12	First Pass	NC_000023.11	ChrX	27,458,496	27,458,496
essv16890770	Remapped	Perfect	NC_000023.11:g.274 58496delins125	GRCh38.p12	First Pass	NC_000023.11	ChrX	27,458,496	27,458,496
essv16890771	Remapped	Perfect	NC_000023.11:g.274 58496delins125	GRCh38.p12	First Pass	NC_000023.11	ChrX	27,458,496	27,458,496
essv16890772	Remapped	Perfect	NC_000023.11:g.274 58496delins125	GRCh38.p12	First Pass	NC_000023.11	ChrX	27,458,496	27,458,496
essv16890773	Remapped	Perfect	NC_000023.11:g.274 58496delins125	GRCh38.p12	First Pass	NC_000023.11	ChrX	27,458,496	27,458,496
essv16890769	Submitted genomic		NC_000023.10:g.274 76613delinsGTCTGGG ATGTGAGGAGCGTCTCTG CCTGGCTGCCCCGTCTGG GAGTCTCTGAAGTGAGGA GCACCTCTGCCCGGCCGC CACCCTGTCTGGGAAGTG AGGAGCGCCTCTGCCCAG CCACCACCCC	GRCh37 (hg19)		NC_000023.10	ChrX	27,476,613	27,476,613
essv16890770	Submitted genomic		NC_000023.10:g.274 76613delinsGTCTGGG ATGTGAGGAGCGTCTCTG CCTGGCTGCCCCGTCTGG GAGTCTCTGAAGTGAGGA GCACCTCTGCCCGGCCGC CACCCTGTCTGGGAAGTG AGGAGCGCCTCTGCCCAG CCACCACCCC	GRCh37 (hg19)		NC_000023.10	ChrX	27,476,613	27,476,613
essv16890771	Submitted genomic		NC_000023.10:g.274 76613delinsGTCTGGG ATGTGAGGAGCGTCTCTG CCTGGCTGCCCCGTCTGG GAGTCTCTGAAGTGAGGA GCACCTCTGCCCGGCCGC CACCCTGTCTGGGAAGTG AGGAGCGCCTCTGCCCAG CCACCACCCC	GRCh37 (hg19)		NC_000023.10	ChrX	27,476,613	27,476,613
essv16890772	Submitted genomic		NC_000023.10:g.274 76613delinsGTCTGGG ATGTGAGGAGCGTCTCTG CCTGGCTGCCCCGTCTGG GAGTCTCTGAAGTGAGGA GCACCTCTGCCCGGCCGC CACCCTGTCTGGGAAGTG AGGAGCGCCTCTGCCCAG CCACCACCCC	GRCh37 (hg19)		NC_000023.10	ChrX	27,476,613	27,476,613
essv16890773	Submitted genomic		NC_000023.10:g.274 76613delinsGTCTGGG ATGTGAGGAGCGTCTCTG CCTGGCTGCCCCGTCTGG GAGTCTCTGAAGTGAGGA GCACCTCTGCCCGGCCGC CACCCTGTCTGGGAAGTG AGGAGCGCCTCTGCCCAG CCACCACCCC	GRCh37 (hg19)		NC_000023.10	ChrX	27,476,613	27,476,613

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.

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