A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv59n106



Internal ID20159416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22577707..22579607hg38UCSC Ensembl
chr1:22904200..22906100hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1128592, nsv1115340
SamplesKWS2, KWS1
Known GenesEPHA8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv59n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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