A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10522187



Internal ID524003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:63269758..63275248hg38UCSC Ensembl
Innerchr2:63269759..63275248hg38UCSC Ensembl
Outerchr2:63269758..63275249hg38UCSC Ensembl
chr2:63496893..63502383hg19UCSC Ensembl
Innerchr2:63496894..63502383hg19UCSC Ensembl
Outerchr2:63496893..63502384hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg385491
hg195491
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591052
Supporting Variants
SamplesHG01101
Known GenesWDPCP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10522187
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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