A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4086n100



Internal ID20155702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143410351..143444691hg38UCSC Ensembl
chr2:144167920..144202260hg19UCSC Ensembl
chr2:143884390..143918730hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3834341
hg1934341
hg1834341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1014731, nsv1002137
Samples
Known GenesARHGAP15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4086n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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