A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751147



Internal ID12984699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:65298699..65469070hg38UCSC Ensembl
Innerchr13:65872831..66043202hg19UCSC Ensembl
Innerchr13:64770832..64941203hg18UCSC Ensembl
Innerchr13:64770832..64941203hg17UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg38170372
hg19170372
hg18170372
hg17170372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983980, essv6989403, essv6983981
SamplesBEC_74
Known Genes
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)esv2751147
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer