A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986863



Internal ID12633482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144038242..144110242hg38UCSC Ensembl
Innerchr4:144959395..145031395hg19UCSC Ensembl
Innerchr4:145178845..145250845hg18UCSC Ensembl
Innerchr4:145317000..145389000hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3872001
hg1972001
hg1872001
hg1772001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34834
Supporting Variants
SamplesNA18552
Known GenesGYPA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986863
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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