A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751136



Internal ID12638002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22982261..24393377hg38UCSC Ensembl
Innerchr13:23556400..24967515hg19UCSC Ensembl
Innerchr13:22454400..23865515hg18UCSC Ensembl
Innerchr13:22454400..23865515hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381411117
hg191411116
hg181411116
hg171411116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987964, essv6981475, essv6981476, essv6981474, essv6981473, essv6981477, essv6989242, essv6987965
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
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751136
Frequency
Sample Size771
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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