A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978480



Internal ID12982044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:62643000..63245808hg38UCSC Ensembl
Innerchr7:62103378..62706186hg19UCSC Ensembl
Innerchr7:61740813..62343621hg18UCSC Ensembl
Innerchr7:61547528..62150336hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38602809
hg19602809
hg18602809
hg17602809
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)essv6978480
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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