A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971044



Internal ID10074228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:103222992..103223435hg38UCSC Ensembl
Outerchr13:103875342..103875785hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747912
Supporting Variants
SamplesSSM028
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)essv6971044
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