A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1780n106



Internal ID19019889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38602360..38603460hg38UCSC Ensembl
chr19:39093000..39094100hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1110326, nsv1115547
SamplesKWS1, KWS2
Known GenesMAP4K1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1780n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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