A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv210e55



Internal ID18985441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179293967..179534709hg38UCSC Ensembl
chr5:178720968..178961710hg19UCSC Ensembl
chr5:178653574..178894316hg18UCSC Ensembl
chr5:178653574..178894316hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38240743
hg19240743
hg18240743
hg17240743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34254, esv34709
SamplesNA18956, NA19000
Known GenesADAMTS2
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)dgv210e55
Frequency
Sample Size771
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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