A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978481



Internal ID12982045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:62730490..63245808hg38UCSC Ensembl
Innerchr7:62190868..62706186hg19UCSC Ensembl
Innerchr7:61828303..62343621hg18UCSC Ensembl
Innerchr7:61635018..62150336hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38515319
hg19515319
hg18515319
hg17515319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34858
Supporting Variants
SamplesNA19116
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978481
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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