A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2597n106



Internal ID22796425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130628692..130634268hg38UCSC Ensembl
chr3:130347536..130353112hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385577
hg195577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1135596, nsv1130036
SamplesKWS2
Known GenesCOL6A6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2597n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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