A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789078



Internal ID19178133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:119015632..119068453hg38UCSC Ensembl
Innerchr8:120027871..120080692hg19UCSC Ensembl
Innerchr8:120097052..120149873hg18UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3852822
hg1952822
hg1852822
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891471
Supporting Variants
Samples
Known GenesCOLEC10
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789078
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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