A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986982



Internal ID12634333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76585480..76936433hg38UCSC Ensembl
Innerchr7:76214797..76565750hg19UCSC Ensembl
Innerchr7:76052733..76403686hg18UCSC Ensembl
Innerchr7:75859448..76210401hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38350954
hg19350954
hg18350954
hg17350954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34358
Supporting Variants
SamplesNA18863
Known GenesLOC100133091, POMZP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986982
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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