A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv214n100



Internal ID22786301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103556018..103589725hg38UCSC Ensembl
chr1:104098640..104132347hg19UCSC Ensembl
chr1:103900163..103933870hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3833708
hg1933708
hg1833708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002148, nsv1002699, nsv1012179
Samples
Known GenesACTG1P4, AMY2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv214n100
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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