A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979530



Internal ID12633641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239744120..240133730hg38UCSC Ensembl
Innerchr1:239907420..240297030hg19UCSC Ensembl
Innerchr1:237974043..238363653hg18UCSC Ensembl
Innerchr1:236233461..236623071hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38389611
hg19389611
hg18389611
hg17389611
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)essv6979530
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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