A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1137n106



Internal ID20160494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101782063..101783363hg38UCSC Ensembl
chr14:102248400..102249700hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1143617, nsv1136181
SamplesKWS1, KWS2
Known GenesPPP2R5C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1137n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer