A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981475



Internal ID12625498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22994058..24389233hg38UCSC Ensembl
Innerchr13:23568197..24963371hg19UCSC Ensembl
Innerchr13:22466197..23861371hg18UCSC Ensembl
Innerchr13:22466197..23861371hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381395176
hg191395175
hg181395175
hg171395175
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751136
Supporting Variants
SamplesBEC_24
Known GenesANKRD20A19P, C1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SACS-AS1, SGCG, SPATA13, SPATA13-AS1, TNFRSF19
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981475
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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