A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787926



Internal ID18823818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22138291..22600790hg38UCSC Ensembl
Innerchr14:22606250..23069700hg19UCSC Ensembl
Innerchr14:21676090..22139540hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38462500
hg19463451
hg18463451
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892469
Supporting Variants
Samples
Known GenesABHD4, DAD1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=184
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787926
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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