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dbVar

Database of genomic structural variation

esv3817899

Organism: Homo sapiens

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

Variant Calls:2
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: 410 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):112,177,769-112,177,769

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3817899	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	112,177,769	112,177,769
esv3817899	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	111,420,997	111,420,997

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16938425	mobile element insertion	SAMN00249858	Sequencing	Read depth and paired-end mapping	Heterozygous	2,739
essv16938426	mobile element insertion	SAMN00000452	Sequencing	Read depth and paired-end mapping	Heterozygous	2,811

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16938425	Remapped	Perfect	NC_000023.11:g.112 177769_112177770in s?	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,177,769	112,177,769
essv16938426	Remapped	Perfect	NC_000023.11:g.112 177769_112177770in s?	GRCh38.p12	First Pass	NC_000023.11	ChrX	112,177,769	112,177,769
essv16938425	Submitted genomic		NC_000023.10:g.111 420997_111420998in s?	GRCh37 (hg19)		NC_000023.10	ChrX	111,420,997	111,420,997
essv16938426	Submitted genomic		NC_000023.10:g.111 420997_111420998in s?	GRCh37 (hg19)		NC_000023.10	ChrX	111,420,997	111,420,997

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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