A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4105n100



Internal ID20155721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176208991..176292655hg38UCSC Ensembl
chr2:177073719..177157383hg19UCSC Ensembl
chr2:176781965..176865629hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3883665
hg1983665
hg1883665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004473, nsv998005, nsv1006088
Samples
Known GenesMTX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4105n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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