A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2598n106



Internal ID22796426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130636656..130637256hg38UCSC Ensembl
chr3:130355500..130356100hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1122070, nsv1145000
SamplesKWS2, KWS1
Known GenesCOL6A6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2598n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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