A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784563



Internal ID18823897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:80236549..80579579hg38UCSC Ensembl
Innerchr4:81157703..81500733hg19UCSC Ensembl
Innerchr4:81376727..81719757hg18UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38343031
hg19343031
hg18343031
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893966
Supporting Variants
Samples
Known GenesC4orf22, FGF5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=52
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784563
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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