A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982096



Internal ID12627745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:77827597..78054122hg38UCSC Ensembl
Innerchr4:78748751..78975276hg19UCSC Ensembl
Innerchr4:78967775..79194300hg18UCSC Ensembl
Innerchr4:79105930..79332455hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38226526
hg19226526
hg18226526
hg17226526
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752050
Supporting Variants
SamplesBEC_519
Known GenesMRPL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982096
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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