A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6823808



Internal ID10224910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71553194..71553453hg38UCSC Ensembl
Outerchr13:72127326..72127585hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747607, esv2747603
Supporting Variants
SamplesSSM079
Known GenesDACH1
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)essv6823808
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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