A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985013



Internal ID12631226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76417007..76920728hg38UCSC Ensembl
Innerchr7:76046324..76550045hg19UCSC Ensembl
Innerchr7:75884260..76387981hg18UCSC Ensembl
Innerchr7:75690975..76194696hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38503722
hg19503722
hg18503722
hg17503722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752178
Supporting Variants
SamplesBEC_817
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, UPK3B, ZP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985013
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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