A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2525n106



Internal ID20161882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52409884..52410684hg38UCSC Ensembl
chr3:52443900..52444700hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1133557, nsv1126648
SamplesKWS2, KWS1
Known GenesBAP1, PHF7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2525n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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