A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892253



Internal ID18836387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99443292..99619389hg38UCSC Ensembl
Outerchr12:99443292..99619389hg38UCSC Ensembl
Innerchr12:99837070..100013167hg19UCSC Ensembl
Outerchr12:99837070..100013167hg19UCSC Ensembl
Innerchr12:98361201..98537298hg18UCSC Ensembl
Outerchr12:98361201..98537298hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38176098
hg19176098
hg18176098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797519
Samples
Known GenesANKS1B
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892253
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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