A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790881



Internal ID18826425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:149995950..150249235hg38UCSC Ensembl
Innerchr4:150917102..151170387hg19UCSC Ensembl
Innerchr4:151136552..151389837hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38253286
hg19253286
hg18253286
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894052
Supporting Variants
Samples
Known GenesDCLK2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=50
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790881
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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