A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752028



Internal ID12985580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143867242..144109548hg38UCSC Ensembl
Innerchr4:144788395..145030701hg19UCSC Ensembl
Innerchr4:145007845..145250151hg18UCSC Ensembl
Innerchr4:145146000..145388306hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38242307
hg19242307
hg18242307
hg17242307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv189e55
Supporting Variantsessv6983243, essv6983244, essv6988642, essv6983242, essv6986380
SamplesBEC_558
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)esv2752028
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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