A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2127n106



Internal ID20161484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199447729..199447956hg38UCSC Ensembl
chr2:200312452..200312679hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112006, nsv1111581
SamplesKWS2
Known GenesSATB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2127n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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