A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3068n106



Internal ID20162425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31849875..31849997hg38UCSC Ensembl
chr5:31849981..31850103hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1111672, nsv1130504
SamplesKWS2
Known GenesPDZD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3068n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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