A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25801109



Internal ID18833677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:119104995..119171411hg38UCSC Ensembl
Innerchr8:120117234..120183650hg19UCSC Ensembl
Innerchr8:120186415..120252831hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3866417
hg1966417
hg1866417
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891472
Supporting Variants
Samples
Known GenesCOLEC10
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25801109
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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