A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983243



Internal ID12628351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143885242..144038242hg38UCSC Ensembl
Innerchr4:144806395..144959395hg19UCSC Ensembl
Innerchr4:145025845..145178845hg18UCSC Ensembl
Innerchr4:145164000..145317000hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38153001
hg19153001
hg18153001
hg17153001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752028
Supporting Variants
SamplesBEC_558
Known GenesGYPB, GYPE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983243
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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