A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792359



Internal ID18819078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:118395155..118735570hg38UCSC Ensembl
Innerchr6:118716318..119056733hg19UCSC Ensembl
Innerchr6:118823011..119163426hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38340416
hg19340416
hg18340416
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890931
Supporting Variants
Samples
Known GenesBRD7P3, CEP85L, PLN
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=65
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792359
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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