A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981164



Internal ID12626233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143867490..144110688hg38UCSC Ensembl
Innerchr4:144788643..145031841hg19UCSC Ensembl
Innerchr4:145008093..145251291hg18UCSC Ensembl
Innerchr4:145146248..145389446hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38243199
hg19243199
hg18243199
hg17243199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752029
Supporting Variants
SamplesBEC_360
Known GenesGYPA, GYPB, GYPE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981164
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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