A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981476



Internal ID12625497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22994061..23678861hg38UCSC Ensembl
Innerchr13:23568200..24253000hg19UCSC Ensembl
Innerchr13:22466200..23151000hg18UCSC Ensembl
Innerchr13:22466200..23151000hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38684801
hg19684801
hg18684801
hg17684801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751136
Supporting Variants
SamplesBEC_24
Known GenesLINC00327, SACS, SACS-AS1, SGCG, TNFRSF19
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981476
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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