A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792777



Internal ID18835690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:70756959..72965464hg38UCSC Ensembl
Innerchr18:68424195..70632699hg19UCSC Ensembl
Innerchr18:66575175..68783679hg18UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg382208506
hg192208505
hg182208505
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893139
Supporting Variants
Samples
Known GenesCBLN2, LOC100505776, NETO1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=577
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792777
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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