A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983832



Internal ID12629323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76585480..77190972hg38UCSC Ensembl
Innerchr7:76214797..76820289hg19UCSC Ensembl
Innerchr7:76052733..76658225hg18UCSC Ensembl
Innerchr7:75859448..76464940hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38605493
hg19605493
hg18605493
hg17605493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752182
Supporting Variants
SamplesBEC_631
Known GenesCCDC146, DTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983832
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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