A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751143



Internal ID12984695
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 StatusM
Merged Variantsdgv75e55
Supporting Variantsessv6989745, essv6989349, essv6983162
SamplesBEC_549
Known GenesVWA8, VWA8-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751143
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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