A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2521n106



Internal ID20161878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47449110..47451950hg38UCSC Ensembl
chr3:47490600..47493440hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382841
hg192841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1123645, nsv1132746
SamplesKWS1, KWS2
Known GenesSCAP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2521n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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