A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv198e55



Internal ID20126677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:685389..919382hg38UCSC Ensembl
chr5:685504..919497hg19UCSC Ensembl
chr5:738504..972497hg18UCSC Ensembl
chr5:738504..972497hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38233994
hg19233994
hg18233994
hg17233994
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34263, esv34997
SamplesNA18859, NA19202
Known GenesBRD9, TPPP, TRIP13, ZDHHC11
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv198e55
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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