A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3649n100



Internal ID22789736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53425499..53519945hg38UCSC Ensembl
chr19:53928752..54023199hg19UCSC Ensembl
chr19:58620564..58715011hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3894447
hg1994448
hg1894448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060341, nsv1064037, nsv1061051, nsv1061003, nsv1067473, nsv1065516, nsv1057554, nsv1061467, nsv1066291
Samples
Known GenesTPM3P9, ZNF761, ZNF813
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3649n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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