A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983812



Internal ID12629280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143800507..144109548hg38UCSC Ensembl
Innerchr4:144721660..145030701hg19UCSC Ensembl
Innerchr4:144941110..145250151hg18UCSC Ensembl
Innerchr4:145079265..145388306hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38309042
hg19309042
hg18309042
hg17309042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752027
Supporting Variants
SamplesBEC_629
Known GenesGYPA, GYPB, GYPE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983812
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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