A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14672948



Internal ID6478315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25602775..25615206hg38UCSC Ensembl
Innerchr13:25602785..25615196hg38UCSC Ensembl
Outerchr13:25602765..25615216hg38UCSC Ensembl
chr13:26176913..26189344hg19UCSC Ensembl
Innerchr13:26176923..26189334hg19UCSC Ensembl
Outerchr13:26176903..26189354hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3812432
hg1912432
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631585
Supporting Variants
SamplesNA20524
Known GenesATP8A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14672948
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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