A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980986



Internal ID12635701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76585543..77091265hg38UCSC Ensembl
Innerchr7:76214860..76720582hg19UCSC Ensembl
Innerchr7:76052796..76558518hg18UCSC Ensembl
Innerchr7:75859511..76365233hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38505723
hg19505723
hg18505723
hg17505723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34614
Supporting Variants
SamplesNA19161
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980986
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer