A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797917



Internal ID19171402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72628300..72980905hg38UCSC Ensembl
Innerchr12:73022080..73374685hg19UCSC Ensembl
Innerchr12:71308347..71660952hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38352606
hg19352606
hg18352606
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892220
Supporting Variants
Samples
Known GenesTRHDE
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=51
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797917
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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