A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3621n100



Internal ID20155237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49092699..49163985hg38UCSC Ensembl
chr19:49595956..49667242hg19UCSC Ensembl
chr19:54287768..54359054hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3871287
hg1971287
hg1871287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062446, nsv1063142
Samples
Known GenesC19orf73, HRC, LIN7B, PPFIA3, SNRNP70, TRPM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3621n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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