A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6752481



Internal ID9813715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:60329865..60330558hg38UCSC Ensembl
Outerchr11:60097338..60098031hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744570, esv2744569
Supporting Variants
SamplesSSM057
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)essv6752481
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