A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985454



Internal ID12635715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76514332..76936432hg38UCSC Ensembl
Innerchr7:76143649..76565749hg19UCSC Ensembl
Innerchr7:75981585..76403685hg18UCSC Ensembl
Innerchr7:75788300..76210400hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38422101
hg19422101
hg18422101
hg17422101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34614
Supporting Variants
SamplesNA19161
Known GenesLOC100133091, POMZP3, UPK3B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985454
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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