A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780092



Internal ID18813915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55865477..55885305hg38UCSC Ensembl
Innerchr2:56092612..56112440hg19UCSC Ensembl
Innerchr2:55946116..55965944hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3819829
hg1919829
hg1819829
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892437
Supporting Variants
Samples
Known GenesEFEMP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780092
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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