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dbVar

Database of genomic structural variation

esv3872343

Organism: Homo sapiens

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

Variant Calls:1
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: 154 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):27,598,530-27,598,530

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3872343	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	27,598,530 (-0, +379)	27,598,530 (-379, +0)
esv3872343	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	28,067,736 (-0, +379)	28,067,736 (-379, +0)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv23407965	insertion	HG03057	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,087

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv23407965	Remapped	Perfect	NC_000014.9:g.(275 98530_27598909)_(2 7598151_27598530)i ns50	GRCh38.p12	First Pass	NC_000014.9	Chr14	27,598,530 (-0, +379)	27,598,530 (-379, +0)
essv23407965	Submitted genomic		NC_000014.8:g.(280 67736_28068115)_(2 8067357_28067736)i ns50	GRCh37 (hg19)		NC_000014.8	Chr14	28,067,736 (-0, +379)	28,067,736 (-379, +0)

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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