A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14712217



Internal ID4714033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46054430..46111192hg38UCSC Ensembl
Innerchr13:46054430..46111192hg38UCSC Ensembl
Outerchr13:46053930..46111692hg38UCSC Ensembl
chr13:46628565..46685327hg19UCSC Ensembl
Innerchr13:46628565..46685327hg19UCSC Ensembl
Outerchr13:46628065..46685827hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3856763
hg1956763
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631973
Supporting Variants
SamplesNA20902
Known GenesCPB2, CPB2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14712217
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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