A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv27e201



Internal ID22759385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96524143..96524524hg38UCSC Ensembl
chr1:96989699..96990080hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38382
hg19382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2715141, esv2715118
SamplesSSM036, SSM008, SSM071, SSM045, SSM065, SSM039, SSM023, SSM047, SSM018, SSM026, SSM017, SSM031, SSM086, SSM068, SSM080, SSM037, SSM025
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv27e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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