A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892403



Internal ID19183223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54180955..54296148hg38UCSC Ensembl
Outerchr2:54180955..54296148hg38UCSC Ensembl
Innerchr2:54408092..54523285hg19UCSC Ensembl
Outerchr2:54408092..54523285hg19UCSC Ensembl
Innerchr2:54261596..54376789hg18UCSC Ensembl
Outerchr2:54261596..54376789hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38115194
hg19115194
hg18115194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782151
Samples
Known GenesACYP2, TSPYL6
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892403
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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