A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787419



Internal ID19178208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54757287..54796463hg38UCSC Ensembl
Innerchr2:54984424..55023600hg19UCSC Ensembl
Innerchr2:54837928..54877104hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3839177
hg1939177
hg1839177
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892426
Supporting Variants
Samples
Known GenesEML6
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=15
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787419
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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