A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv239e201



Internal ID22759597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110408950..110409183hg38UCSC Ensembl
chr13:111061297..111061530hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2748019, esv2748016
SamplesSSM075, SSM079, SSM087, SSM088, SSM035, SSM094, SSM044, SSM072, SSM080, SSM076
Known GenesCOL4A2
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)dgv239e201
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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