A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752029



Internal ID12985581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143867242..144110688hg38UCSC Ensembl
Innerchr4:144788395..145031841hg19UCSC Ensembl
Innerchr4:145007845..145251291hg18UCSC Ensembl
Innerchr4:145146000..145389446hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38243447
hg19243447
hg18243447
hg17243447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv189e55
Supporting Variantsessv6985501, essv6981164, essv6981165, essv6988364, essv6985500
SamplesBEC_360
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)esv2752029
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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