A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10760595



Internal ID805640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:172437752..172439739hg38UCSC Ensembl
Innerchr2:172437752..172439739hg38UCSC Ensembl
Outerchr2:172437439..172440114hg38UCSC Ensembl
chr2:173302480..173304467hg19UCSC Ensembl
Innerchr2:173302480..173304467hg19UCSC Ensembl
Outerchr2:173302167..173304842hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381988
hg191988
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593363
Supporting Variants
SamplesHG00381
Known GenesITGA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10760595
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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