A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1913n106



Internal ID22795741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53671695..53671908hg38UCSC Ensembl
chr2:53898832..53899045hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130401, nsv1111561
SamplesKWS2
Known GenesASB3, GPR75-ASB3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1913n106
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