A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788606



Internal ID18815158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:48950192..49089765hg38UCSC Ensembl
Innerchr4:48952209..49091782hg19UCSC Ensembl
Innerchr4:48646966..48786539hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38139574
hg19139574
hg18139574
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893921
Supporting Variants
Samples
Known GenesCWH43
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788606
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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