A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892255



Internal ID18836389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99703568..99738892hg38UCSC Ensembl
Outerchr12:99703568..99738892hg38UCSC Ensembl
Innerchr12:100097346..100132670hg19UCSC Ensembl
Outerchr12:100097346..100132670hg19UCSC Ensembl
Innerchr12:98621477..98656801hg18UCSC Ensembl
Outerchr12:98621477..98656801hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3835325
hg1935325
hg1835325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797674
Samples
Known GenesANKS1B
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892255
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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