A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6907884



Internal ID9985475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67709991..67990003hg38UCSC Ensembl
Outerchr11:67477462..67757474hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38280013
hg19280013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744651
Supporting Variants
SamplesSSM002
Known GenesFAM86C2P
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)essv6907884
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