A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1676n106



Internal ID19019785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:589600..590600hg38UCSC Ensembl
chr19:589600..590600hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1133434, nsv1126493
SamplesKWS1, KWS2
Known GenesHCN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1676n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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