A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981477



Internal ID12625496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24153061..24319562hg38UCSC Ensembl
Innerchr13:24727200..24893700hg19UCSC Ensembl
Innerchr13:23625200..23791700hg18UCSC Ensembl
Innerchr13:23625200..23791700hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38166502
hg19166501
hg18166501
hg17166501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751136
Supporting Variants
SamplesBEC_24
Known GenesC1QTNF9, MIR2276, SPATA13, SPATA13-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981477
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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