A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5048n100



Internal ID22791135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:198052748..198169134hg38UCSC Ensembl
chr3:197779619..197896005hg19UCSC Ensembl
chr3:199264016..199380402hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38116387
hg19116387
hg18116387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998981, nsv999484
Samples
Known GenesANKRD18DP, FAM157A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5048n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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