A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1621n100



Internal ID20153237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24694944..24762408hg38UCSC Ensembl
chr13:25269082..25336546hg19UCSC Ensembl
chr13:24167082..24234546hg18UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3867465
hg1967465
hg1867465
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1040156, nsv1036802, nsv1053947, nsv1050124, nsv1036890, nsv1038169, nsv1052602
Samples
Known GenesATP12A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1621n100
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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