A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433195



Internal ID435011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25860228..25863238hg38UCSC Ensembl
Innerchr2:25860255..25863211hg38UCSC Ensembl
Outerchr2:25860201..25863265hg38UCSC Ensembl
chr2:26083097..26086107hg19UCSC Ensembl
Innerchr2:26083124..26086080hg19UCSC Ensembl
Outerchr2:26083070..26086134hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383011
hg193011
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590101
Supporting Variants
SamplesNA19917
Known GenesASXL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433195
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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