A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788411



Internal ID18829908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143572032..144009062hg38UCSC Ensembl
Innerchr4:144493185..144930215hg19UCSC Ensembl
Innerchr4:144712635..145149665hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38437031
hg19437031
hg18437031
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894047
Supporting Variants
Samples
Known GenesFREM3, GYPB, GYPE
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=63
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788411
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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