A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790001



Internal ID19172856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:77344161..77385115hg38UCSC Ensembl
Innerchr1:77809846..77850800hg19UCSC Ensembl
Innerchr1:77582434..77623388hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3840955
hg1940955
hg1840955
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893745
Supporting Variants
Samples
Known GenesAK5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790001
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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