A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987965



Internal ID12625481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:23824461..23992561hg38UCSC Ensembl
Innerchr13:24398600..24566700hg19UCSC Ensembl
Innerchr13:23296600..23464700hg18UCSC Ensembl
Innerchr13:23296600..23464700hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38168101
hg19168101
hg18168101
hg17168101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751136
Supporting Variants
SamplesBEC_24
Known GenesANKRD20A19P, C1QTNF9B, C1QTNF9B-AS1, MIPEP, SPATA13
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987965
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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