A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv785n106



Internal ID20160142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26358087..26358420hg38UCSC Ensembl
chr12:26511020..26511353hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1113468, nsv1136096
SamplesKWS1, KWS2
Known GenesITPR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv785n106
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