A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894042



Internal ID18838210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144002957..144114635hg38UCSC Ensembl
Outerchr4:143988650..144145332hg38UCSC Ensembl
Innerchr4:144924110..145035788hg19UCSC Ensembl
Outerchr4:144909803..145066485hg19UCSC Ensembl
Innerchr4:145143560..145255238hg18UCSC Ensembl
Outerchr4:145129253..145285935hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38156683
hg19156683
hg18156683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791632, essv25792529, essv25791815, essv25789387, essv25788943, essv25790388, essv25788585, essv25789293, essv25788778, essv25788775, essv25788658, essv25789854, essv25790037, essv25790198, essv25792972, essv25789596, essv25788608, essv25792885
Samples
Known GenesGYPA, GYPB
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894042
Frequency
Sample Size3017
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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