A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1818n106



Internal ID20161175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54781348..54818945hg38UCSC Ensembl
chr19:55292800..55330400hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3837598
hg1937601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1133456, nsv1144884
SamplesKWS1, KWS2
Known GenesKIR2DL1, KIR2DL4, KIR3DL1, LOC100287534
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1818n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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