A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv250e55



Internal ID20126729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:16428382..17030830hg38UCSC Ensembl
chr8:16285891..16888339hg19UCSC Ensembl
chr8:16330262..16932710hg18UCSC Ensembl
chr8:16330262..16932710hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38602449
hg19602449
hg18602449
hg17602449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34322, esv34335
SamplesNA12814, NA12802
Known GenesFGF20, MICU3
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)dgv250e55
Frequency
Sample Size771
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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