A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1489n106



Internal ID22795317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58726387..58726453hg38UCSC Ensembl
chr17:56803748..56803814hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1125249, nsv1135828
SamplesKWS2, KWS1
Known GenesRAD51C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1489n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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