A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989349



Internal ID12974915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41833664..41996964hg38UCSC Ensembl
Innerchr13:42407800..42571100hg19UCSC Ensembl
Innerchr13:41305800..41469100hg18UCSC Ensembl
Innerchr13:41305800..41469100hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38163301
hg19163301
hg18163301
hg17163301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751143
Supporting Variants
SamplesBEC_549
Known GenesVWA8, VWA8-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989349
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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