A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2128n106



Internal ID22795956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199665663..199665756hg38UCSC Ensembl
chr2:200530386..200530479hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112700, nsv1126770
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2128n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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