A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792404



Internal ID19171013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:208472745..208944955hg38UCSC Ensembl
Innerchr1:208646090..209118300hg19UCSC Ensembl
Innerchr1:206712713..207184923hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38472211
hg19472211
hg18472211
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891093
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=122
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792404
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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