A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4191n100



Internal ID20155807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235085672..235523486hg38UCSC Ensembl
chr2:235994316..236432130hg19UCSC Ensembl
chr2:235659055..236096869hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38437815
hg19437815
hg18437815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998401, nsv1004316, nsv1006107, nsv1013692
Samples
Known GenesAGAP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4191n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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