A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752099



Internal ID12638965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167034693..167165614hg38UCSC Ensembl
Innerchr6:167448181..167579102hg19UCSC Ensembl
Innerchr6:167368171..167499092hg18UCSC Ensembl
Innerchr6:167418592..167549513hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38130922
hg19130922
hg18130922
hg17130922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983467, essv6983466, essv6986445
SamplesBEC_658
Known GenesCCR6, FGFR1OP, GPR31
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)esv2752099
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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