A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892220



Internal ID19183040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:72628300..72980905hg38UCSC Ensembl
Outerchr12:72628300..72980905hg38UCSC Ensembl
Innerchr12:73022080..73374685hg19UCSC Ensembl
Outerchr12:73022080..73374685hg19UCSC Ensembl
Innerchr12:71308347..71660952hg18UCSC Ensembl
Outerchr12:71308347..71660952hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38352606
hg19352606
hg18352606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797925, essv25797917
Samples
Known GenesTRHDE
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892220
Frequency
Sample Size3017
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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