A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14935067



Internal ID5893361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23251882..23256035hg38UCSC Ensembl
Innerchr14:23251882..23256035hg38UCSC Ensembl
Outerchr14:23251382..23256535hg38UCSC Ensembl
chr14:23721091..23725244hg19UCSC Ensembl
Innerchr14:23721091..23725244hg19UCSC Ensembl
Outerchr14:23720591..23725744hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg384154
hg194154
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633775
Supporting Variants
SamplesNA19315
Known GenesC14orf164
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14935067
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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