A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1769n106



Internal ID20161126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33193994..33194994hg38UCSC Ensembl
chr19:33684900..33685900hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1143914, nsv1121977
SamplesKWS2, KWS1
Known GenesLRP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1769n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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