A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790478



Internal ID19167662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:228670108..228853454hg38UCSC Ensembl
Innerchr1:228805855..228989201hg19UCSC Ensembl
Innerchr1:226872478..227055824hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38183347
hg19183347
hg18183347
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891181
Supporting Variants
Samples
Known GenesRHOU
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=28
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790478
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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