A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752182



Internal ID12639048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76507967..77190972hg38UCSC Ensembl
Innerchr7:76137284..76820289hg19UCSC Ensembl
Innerchr7:75975220..76658225hg18UCSC Ensembl
Innerchr7:75781935..76464940hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38683006
hg19683006
hg18683006
hg17683006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv233e55
Supporting Variantsessv6983831, essv6983832, essv6983830
SamplesBEC_631
Known GenesCCDC146, DTX2P1-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)esv2752182
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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