A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275552



Internal ID1772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:118564827..118565798hg38UCSC Ensembl
Outerchr6:118557595..118566052hg38UCSC Ensembl
Innerchr6:118885990..118886961hg19UCSC Ensembl
Outerchr6:118878758..118887215hg19UCSC Ensembl
Innerchr6:118992683..118993654hg18UCSC Ensembl
Outerchr6:118985451..118993908hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg388458
hg198458
hg188458
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585799
Samples
Known GenesCEP85L, PLN
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275552
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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