A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892246



Internal ID19183066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94550096..94560327hg38UCSC Ensembl
Outerchr12:94550096..94560327hg38UCSC Ensembl
Innerchr12:94943872..94954103hg19UCSC Ensembl
Outerchr12:94943872..94954103hg19UCSC Ensembl
Innerchr12:93468003..93478234hg18UCSC Ensembl
Outerchr12:93468003..93478234hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3810232
hg1910232
hg1810232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797805
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892246
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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