A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1607n100



Internal ID20153223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:19579153..19933817hg38UCSC Ensembl
chr13:20153293..20507957hg19UCSC Ensembl
chr13:19051293..19405957hg18UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38354665
hg19354665
hg18354665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1049864, nsv1039076, nsv1036305
Samples
Known GenesMPHOSPH8, PSPC1, ZMYM5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1607n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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