A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987964



Internal ID12625482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22982302..24387008hg38UCSC Ensembl
Innerchr13:23556441..24961146hg19UCSC Ensembl
Innerchr13:22454441..23859146hg18UCSC Ensembl
Innerchr13:22454441..23859146hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg381404707
hg191404706
hg181404706
hg171404706
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987964
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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