A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6770932



Internal ID10000818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67894951..67895168hg38UCSC Ensembl
Outerchr11:67662422..67662639hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744655, esv2744654, esv2744651
Supporting Variants
SamplesSSM008
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)essv6770932
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