A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5420n100



Internal ID20157036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143882205..144124407hg38UCSC Ensembl
chr4:144803358..145045560hg19UCSC Ensembl
chr4:145022808..145265010hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38242203
hg19242203
hg18242203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1016629, nsv1029223, nsv1032377
Samples
Known GenesGYPA, GYPB, GYPE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5420n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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