A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5431n100



Internal ID20157047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144002985..144111731hg38UCSC Ensembl
chr4:144924138..145032884hg19UCSC Ensembl
chr4:145143588..145252334hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38108747
hg19108747
hg18108747
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1030393, nsv1028662
Samples
Known GenesGYPA, GYPB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5431n100
Frequency
Sample Size29084
Observed Gain7
Observed Loss3
Observed Complex0
Frequencyn/a


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