A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980829



Internal ID12635445
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 StatusS
Merged Variantsesv34657
Supporting Variants
SamplesNA19131
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)essv6980829
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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