A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892542



Internal ID18836676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50853532..50942040hg38UCSC Ensembl
Outerchr14:50853532..50942040hg38UCSC Ensembl
Innerchr14:51320250..51408758hg19UCSC Ensembl
Outerchr14:51320250..51408758hg19UCSC Ensembl
Innerchr14:50390000..50478508hg18UCSC Ensembl
Outerchr14:50390000..50478508hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3888509
hg1988509
hg1888509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25780966
Samples
Known GenesABHD12B, PYGL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892542
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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