A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751136



Internal ID1703264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23556400..24967515hg19UCSC Ensembl
Innerchr13:22454400..23865515hg18UCSC Ensembl
Innerchr13:22454400..23865515hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6981474, essv6987965, essv6987964, essv6981473, essv6981477, essv6989242, essv6981476, essv6981475
SamplesBEC_24
Known GenesC1QTNF9, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, MIR2276, SACS, SGCG, SPATA13, TNFRSF19
Method
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array + Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set (Pinto2007.txt)
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751136
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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