A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783344



Internal ID18833150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60697464..60793609hg38UCSC Ensembl
Innerchr5:59993291..60089436hg19UCSC Ensembl
Innerchr5:60029048..60125193hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3896146
hg1996146
hg1896146
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894195
Supporting Variants
Samples
Known GenesDEPDC1B, ELOVL7
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783344
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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