A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv215n100



Internal ID20151831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103556018..103621153hg38UCSC Ensembl
chr1:104098640..104163775hg19UCSC Ensembl
chr1:103900163..103965298hg18UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3865136
hg1965136
hg1865136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006497, nsv1014883, nsv1013279, nsv1014676, nsv1009613, nsv1007099, nsv1003223, nsv1002839, nsv1006256, nsv1005640, nsv1003537
Samples
Known GenesACTG1P4, AMY2A, AMY2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv215n100
Frequency
Sample Size29084
Observed Gain95
Observed Loss0
Observed Complex0
Frequencyn/a


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