A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789854



Internal ID18813674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143988650..144114635hg38UCSC Ensembl
Innerchr4:144909803..145035788hg19UCSC Ensembl
Innerchr4:145129253..145255238hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38125986
hg19125986
hg18125986
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894042
Supporting Variants
Samples
Known GenesGYPA, GYPB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789854
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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