A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1518n106



Internal ID20160875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78540118..78541418hg38UCSC Ensembl
chr17:76536200..76537500hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112716, nsv1143865
SamplesKWS1, KWS2
Known GenesDNAH17
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1518n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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