A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979424



Internal ID12633467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143999679..144110688hg38UCSC Ensembl
Innerchr4:144920832..145031841hg19UCSC Ensembl
Innerchr4:145140282..145251291hg18UCSC Ensembl
Innerchr4:145278437..145389446hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38111010
hg19111010
hg18111010
hg17111010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34834
Supporting Variants
SamplesNA18552
Known GenesGYPA, GYPB
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979424
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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