A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6709411



Internal ID10121467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:76718753..76719012hg38UCSC Ensembl
Outerchr11:76429797..76430056hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744798, esv2744797
Supporting Variants
SamplesSSM041
Known GenesGUCY2EP
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)essv6709411
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