A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987502



Internal ID12631041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143962242..144202242hg38UCSC Ensembl
Innerchr4:144883395..145123395hg19UCSC Ensembl
Innerchr4:145102845..145342845hg18UCSC Ensembl
Innerchr4:145241000..145481000hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38240001
hg19240001
hg18240001
hg17240001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752026
Supporting Variants
SamplesBEC_783
Known GenesGYPA, GYPB
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987502
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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