A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2093n106



Internal ID20161450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171808200..171808320hg38UCSC Ensembl
chr2:172664710..172664830hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1120769, nsv1135555
SamplesKWS2
Known GenesSLC25A12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2093n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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