A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1679n106



Internal ID19019788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:835500..859100hg38UCSC Ensembl
chr19:835500..859100hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3823601
hg1923601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1132554, nsv1135837
SamplesKWS1
Known GenesELANE, PRTN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1679n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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