A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv127n106



Internal ID19018236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93822744..93825744hg38UCSC Ensembl
chr1:94288300..94291300hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg383001
hg193001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126188, nsv1117858, nsv1129587
SamplesKWS1
Known GenesBCAR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv127n106
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