A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5423n100



Internal ID22791510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143899563..144038174hg38UCSC Ensembl
chr4:144820716..144959327hg19UCSC Ensembl
chr4:145040166..145178777hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38138612
hg19138612
hg18138612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1026426, nsv1027640, nsv1016513, nsv1020872, nsv1032683, nsv1018177, nsv1018776, nsv1030399, nsv1028525, nsv1023023, nsv1018927, nsv1031960, nsv1033776, nsv1030058, nsv1023960, nsv1020977, nsv1019910
Samples
Known GenesGYPB, GYPE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5423n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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