A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14731536



Internal ID6707611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52461063..52487622hg38UCSC Ensembl
Innerchr13:52461063..52487622hg38UCSC Ensembl
Outerchr13:52460563..52488122hg38UCSC Ensembl
chr13:53035198..53061757hg19UCSC Ensembl
Innerchr13:53035198..53061757hg19UCSC Ensembl
Outerchr13:53034698..53062257hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3826560
hg1926560
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632093
Supporting Variants
SamplesNA20845
Known GenesCKAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14731536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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