A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892415



Internal ID19183235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54417854..54425974hg38UCSC Ensembl
Outerchr2:54417854..54428910hg38UCSC Ensembl
Innerchr2:54644991..54653111hg19UCSC Ensembl
Outerchr2:54644991..54656047hg19UCSC Ensembl
Innerchr2:54498495..54506615hg18UCSC Ensembl
Outerchr2:54498495..54509551hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3811057
hg1911057
hg1811057
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25780477, essv25797232, essv25797266
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892415
Frequency
Sample Size3017
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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