A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979911



Internal ID12634256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76514308..77109274hg38UCSC Ensembl
Innerchr7:76143625..76738591hg19UCSC Ensembl
Innerchr7:75981561..76576527hg18UCSC Ensembl
Innerchr7:75788276..76383242hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38594967
hg19594967
hg18594967
hg17594967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34688
Supporting Variants
SamplesNA18859
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3, UPK3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979911
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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