A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34657



Internal ID12644007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76514332..77109232hg38UCSC Ensembl
Innerchr7:76143649..76738549hg19UCSC Ensembl
Innerchr7:75981585..76576485hg18UCSC Ensembl
Innerchr7:75788300..76383200hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38594901
hg19594901
hg18594901
hg17594901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv232e55
Supporting Variantsessv6980830, essv6980829
SamplesNA19131
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3, UPK3B
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)esv34657
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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