A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14712219



Internal ID3682573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46060368..46061282hg38UCSC Ensembl
Innerchr13:46060418..46061215hg38UCSC Ensembl
Outerchr13:46060318..46061332hg38UCSC Ensembl
chr13:46634503..46635417hg19UCSC Ensembl
Innerchr13:46634553..46635350hg19UCSC Ensembl
Outerchr13:46634453..46635467hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38915
hg19915
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631974
Supporting Variants
SamplesHG03291
Known GenesCPB2, CPB2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14712219
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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