A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752184



Internal ID12639050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76585480..77109274hg38UCSC Ensembl
Innerchr7:76214797..76738591hg19UCSC Ensembl
Innerchr7:76052733..76576527hg18UCSC Ensembl
Innerchr7:75859448..76383242hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38523795
hg19523795
hg18523795
hg17523795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv232e55
Supporting Variantsessv6983207, essv6986369, essv6988638
SamplesBEC_555
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752184
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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