A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6811119



Internal ID10213482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:63408626..63408917hg38UCSC Ensembl
Outerchr5:62704453..62704744hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730266, esv2730261
Supporting Variants
SamplesSSM076
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)essv6811119
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