A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892469



Internal ID18836603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22138291..22385282hg38UCSC Ensembl
Outerchr14:22030921..22600790hg38UCSC Ensembl
Innerchr14:22606250..22853685hg19UCSC Ensembl
Outerchr14:22499160..23069700hg19UCSC Ensembl
Innerchr14:21676090..21923525hg18UCSC Ensembl
Outerchr14:21569000..22139540hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38569870
hg19570541
hg18570541
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782729, essv25787926, essv25784432
Samples
Known GenesABHD4, DAD1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892469
Frequency
Sample Size3017
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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