A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3012n106



Internal ID20162369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:382722..382831hg38UCSC Ensembl
chr5:382837..382946hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1120850, nsv1130499
SamplesKWS2
Known GenesAHRR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3012n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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