A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34614



Internal ID12643964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76514308..77091265hg38UCSC Ensembl
Innerchr7:76143625..76720582hg19UCSC Ensembl
Innerchr7:75981561..76558518hg18UCSC Ensembl
Innerchr7:75788276..76365233hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38576958
hg19576958
hg18576958
hg17576958
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv232e55
Supporting Variantsessv6980985, essv6985455, essv6988340, essv6985454, essv6980986
SamplesNA19161
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)esv34614
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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