A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6217n54



Internal ID20139641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2014038..2015437hg38UCSC Ensembl
chr19:2014037..2015436hg19UCSC Ensembl
chr19:1965037..1966436hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381400
hg191400
hg181400
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv578376, nsv578370, nsv578379
Samples
Known GenesBTBD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6217n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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