A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948869



Internal ID9708638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:881428..881586hg38UCSC Ensembl
Outerchr11:881428..881586hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743880, esv2743878, esv2743879
Supporting Variants
SamplesSSM024
Known GenesCHID1
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)essv6948869
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