A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34615



Internal ID12990651
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv235e55
Supporting Variantsessv6987360, essv6978268
SamplesNA18994
Known GenesDTX2, FDPSP2, LOC100133091, POMZP3, UPK3B, ZP3
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)esv34615
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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