A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792013



Internal ID19180323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130035829..130194436hg38UCSC Ensembl
Innerchr3:129754672..129913279hg19UCSC Ensembl
Innerchr3:131237362..131395969hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38158608
hg19158608
hg18158608
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893773
Supporting Variants
Samples
Known GenesALG1L2, FAM86HP
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=20
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792013
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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