A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1288n106



Internal ID20160645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3868245..3868500hg38UCSC Ensembl
chr16:3918246..3918501hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1120710, nsv1121159
SamplesKWS1, KWS2
Known GenesCREBBP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1288n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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