A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275499



Internal ID348405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:67780147..67780780hg38UCSC Ensembl
Outerchr13:67777163..67783977hg38UCSC Ensembl
Innerchr13:68354279..68354912hg19UCSC Ensembl
Outerchr13:68351295..68358109hg19UCSC Ensembl
Innerchr13:67252280..67252913hg18UCSC Ensembl
Outerchr13:67249296..67256110hg18UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg386815
hg196815
hg186815
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585179, essv2585550
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275499
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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