A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984135



Internal ID12631051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143962290..144110688hg38UCSC Ensembl
Innerchr4:144883443..145031841hg19UCSC Ensembl
Innerchr4:145102893..145251291hg18UCSC Ensembl
Innerchr4:145241048..145389446hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38148399
hg19148399
hg18148399
hg17148399
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)essv6984135
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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