A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1718n106



Internal ID19019827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14621517..14623322hg38UCSC Ensembl
chr19:14732329..14734134hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381806
hg191806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1111544, nsv1121190
SamplesKWS1, KWS2
Known GenesEMR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1718n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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