A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780966



Internal ID18827495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50853532..50942040hg38UCSC Ensembl
Innerchr14:51320250..51408758hg19UCSC Ensembl
Innerchr14:50390000..50478508hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3888509
hg1988509
hg1888509
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892542
Supporting Variants
Samples
Known GenesABHD12B, PYGL
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=28
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780966
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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