A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782061



Internal ID18824298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47374528..47429316hg38UCSC Ensembl
Innerchr17:45451894..45506682hg19UCSC Ensembl
Innerchr17:42806893..42861681hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3854789
hg1954789
hg1854789
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893025
Supporting Variants
Samples
Known GenesEFCAB13
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782061
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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