A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989745



Internal ID12974910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41819688..42008459hg38UCSC Ensembl
Innerchr13:42393824..42582595hg19UCSC Ensembl
Innerchr13:41291824..41480595hg18UCSC Ensembl
Innerchr13:41291824..41480595hg17UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38188772
hg19188772
hg18188772
hg17188772
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)essv6989745
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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