A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979531



Internal ID12633640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239753659..240133659hg38UCSC Ensembl
Innerchr1:239916959..240296959hg19UCSC Ensembl
Innerchr1:237983582..238363582hg18UCSC Ensembl
Innerchr1:236243000..236623000hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38380001
hg19380001
hg18380001
hg17380001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35011
Supporting Variants
SamplesNA18566
Known GenesCHRM3, CHRM3-AS1, FMN2, RPS7P5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979531
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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