A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34783



Internal ID12990819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:9752128..9876265hg38UCSC Ensembl
Innerchr7:9791757..9915894hg19UCSC Ensembl
Innerchr7:9758282..9882419hg18UCSC Ensembl
Innerchr7:9564997..9689134hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38124138
hg19124138
hg18124138
hg17124138
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979431, essv6986865, essv6979433, essv6986866, essv6979432
SamplesNA18552
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)esv34783
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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