A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979947



Internal ID12634305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76507932..76920732hg38UCSC Ensembl
Innerchr7:76137249..76550049hg19UCSC Ensembl
Innerchr7:75975185..76387985hg18UCSC Ensembl
Innerchr7:75781900..76194700hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38412801
hg19412801
hg18412801
hg17412801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34710
Supporting Variants
SamplesNA18862
Known GenesLOC100133091, POMZP3, UPK3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979947
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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