A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1790n106



Internal ID19019899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47693743..47695543hg38UCSC Ensembl
chr19:48197000..48198800hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1144877, nsv1112746
SamplesKWS1, KWS2
Known GenesGLTSCR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1790n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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