A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983242



Internal ID12628350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143867242..143922242hg38UCSC Ensembl
Innerchr4:144788395..144843395hg19UCSC Ensembl
Innerchr4:145007845..145062845hg18UCSC Ensembl
Innerchr4:145146000..145201000hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3855001
hg1955001
hg1855001
hg1755001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752028
Supporting Variants
SamplesBEC_558
Known GenesGYPE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983242
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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