A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2605n106



Internal ID20161962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134574758..134575758hg38UCSC Ensembl
chr3:134293600..134294600hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126656, nsv1122071
SamplesKWS1, KWS2
Known GenesCEP63
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2605n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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