A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3071n106



Internal ID20162428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33626459..33627119hg38UCSC Ensembl
chr5:33626564..33627224hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38661
hg19661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130073, nsv1130505
SamplesKWS2
Known GenesADAMTS12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3071n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer