A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894023



Internal ID18838191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:110873219..110880194hg38UCSC Ensembl
Outerchr1:110873219..110880194hg38UCSC Ensembl
Innerchr1:111415841..111422816hg19UCSC Ensembl
Outerchr1:111415841..111422816hg19UCSC Ensembl
Innerchr1:111217364..111224339hg18UCSC Ensembl
Outerchr1:111217364..111224339hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg386976
hg196976
hg186976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797207
Samples
Known GenesCD53
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894023
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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