A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796161



Internal ID18826543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92932504..92938764hg38UCSC Ensembl
Innerchr14:93398849..93405109hg19UCSC Ensembl
Innerchr14:92468602..92474862hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg386261
hg196261
hg186261
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892576
Supporting Variants
Samples
Known GenesCHGA, ITPK1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796161
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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