A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985014



Internal ID12631225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76507932..77091232hg38UCSC Ensembl
Innerchr7:76137249..76720549hg19UCSC Ensembl
Innerchr7:75975185..76558485hg18UCSC Ensembl
Innerchr7:75781900..76365200hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38583301
hg19583301
hg18583301
hg17583301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752178
Supporting Variants
SamplesBEC_817
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3, UPK3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985014
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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