A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792791



Internal ID18835334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:239761108..240136214hg38UCSC Ensembl
Innerchr1:239924408..240299514hg19UCSC Ensembl
Innerchr1:237991031..238366137hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38375107
hg19375107
hg18375107
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891259
Supporting Variants
Samples
Known GenesCHRM3, CHRM3-AS1, FMN2, RPS7P5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=127
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792791
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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