A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5428n100



Internal ID22791515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143979424..144098631hg38UCSC Ensembl
chr4:144900577..145019784hg19UCSC Ensembl
chr4:145120027..145239234hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38119208
hg19119208
hg18119208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1031399, nsv1022100, nsv1022466, nsv1029304, nsv1020656, nsv1031532, nsv1025832, nsv1022465, nsv1016258, nsv1022183
Samples
Known GenesGYPB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5428n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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