A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894048



Internal ID18838216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143908753..144145332hg38UCSC Ensembl
Outerchr4:143908753..144145332hg38UCSC Ensembl
Innerchr4:144829906..145066485hg19UCSC Ensembl
Outerchr4:144829906..145066485hg19UCSC Ensembl
Innerchr4:145049356..145285935hg18UCSC Ensembl
Outerchr4:145049356..145285935hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38236580
hg19236580
hg18236580
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25790319
Samples
Known GenesGYPA, GYPB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894048
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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