A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752026



Internal ID12638892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143800242..144202456hg38UCSC Ensembl
Innerchr4:144721395..145123609hg19UCSC Ensembl
Innerchr4:144940845..145343059hg18UCSC Ensembl
Innerchr4:145079000..145481214hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38402215
hg19402215
hg18402215
hg17402215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984133, essv6984135, essv6987502, essv6984134, essv6987501
SamplesBEC_783
Known GenesGYPA, GYPB, GYPE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752026
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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