A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978607



Internal ID12632125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76507967..76920728hg38UCSC Ensembl
Innerchr7:76137284..76550045hg19UCSC Ensembl
Innerchr7:75975220..76387981hg18UCSC Ensembl
Innerchr7:75781935..76194696hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38412762
hg19412762
hg18412762
hg17412762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35079
Supporting Variants
SamplesNA12005
Known GenesLOC100133091, POMZP3, UPK3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978607
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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