A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv189e55



Internal ID20126668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143800507..144110688hg38UCSC Ensembl
chr4:144721660..145031841hg19UCSC Ensembl
chr4:144941110..145251291hg18UCSC Ensembl
chr4:145079265..145389446hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38310182
hg19310182
hg18310182
hg17310182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752029, esv2752028, esv2752027
SamplesBEC_360, BEC_558, BEC_629
Known GenesGYPA, GYPB, GYPE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv189e55
Frequency
Sample Size771
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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