A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752129



Internal ID12638995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:68021217..68323676hg38UCSC Ensembl
Innerchr6:68731109..69033568hg19UCSC Ensembl
Innerchr6:68787830..69090289hg18UCSC Ensembl
Innerchr6:68787830..69090289hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38302460
hg19302460
hg18302460
hg17302460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6987126, essv6984961, essv6984962, essv6984960, essv6988872
SamplesSPC_20
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)esv2752129
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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