A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14956546



Internal ID4958362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32362842..32365711hg38UCSC Ensembl
Innerchr14:32362844..32365709hg38UCSC Ensembl
Outerchr14:32362840..32365713hg38UCSC Ensembl
chr14:32832048..32834917hg19UCSC Ensembl
Innerchr14:32832050..32834915hg19UCSC Ensembl
Outerchr14:32832046..32834919hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382870
hg192870
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633983
Supporting Variants
SamplesHG02968
Known GenesAKAP6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14956546
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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