A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1713n106



Internal ID19019822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13368736..13369056hg38UCSC Ensembl
chr19:13479550..13479870hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1111543, nsv1135522
SamplesKWS2
Known GenesCACNA1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1713n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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