A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981473



Internal ID12625485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22982261..23751361hg38UCSC Ensembl
Innerchr13:23556400..24325500hg19UCSC Ensembl
Innerchr13:22454400..23223500hg18UCSC Ensembl
Innerchr13:22454400..23223500hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38769101
hg19769101
hg18769101
hg17769101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751136
Supporting Variants
SamplesBEC_24
Known GenesLINC00327, MIPEP, SACS, SACS-AS1, SGCG, TNFRSF19
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981473
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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