A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10519376



Internal ID1192310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60056389..60061176hg38UCSC Ensembl
Innerchr2:60056389..60061176hg38UCSC Ensembl
Outerchr2:60056278..60061337hg38UCSC Ensembl
chr2:60283524..60288311hg19UCSC Ensembl
Innerchr2:60283524..60288311hg19UCSC Ensembl
Outerchr2:60283413..60288472hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384788
hg194788
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590998
Supporting Variants
SamplesHG01067
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10519376
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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