A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2389n106



Internal ID19020498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39348674..39349474hg38UCSC Ensembl
chr21:40720600..40721400hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1133527, nsv1144001
SamplesKWS1, KWS2
Known GenesHMGN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2389n106
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