A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv887n106



Internal ID19018996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123911053..123912553hg38UCSC Ensembl
chr12:124395600..124397100hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1112623, nsv1126328
SamplesKWS1, KWS2
Known GenesDNAH10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv887n106
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