A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv674n100



Internal ID20152290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12077012..12134998hg38UCSC Ensembl
chr10:12119011..12176997hg19UCSC Ensembl
chr10:12159017..12217003hg18UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3857987
hg1957987
hg1857987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1041339, nsv1044342, nsv1035886
Samples
Known GenesDHTKD1, SEC61A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv674n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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