A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1674n106



Internal ID22795502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:517200..518900hg38UCSC Ensembl
chr19:517200..518900hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381701
hg191701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126492, nsv1121959
SamplesKWS2, KWS1
Known GenesTPGS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1674n106
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