A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2511n106



Internal ID22796339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40212130..40212188hg38UCSC Ensembl
chr3:40253621..40253679hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1116984, nsv1114372
SamplesKWS2, KWS1
Known GenesEIF1B-AS1, MYRIP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2511n106
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