A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744002



Internal ID9978286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2299813..2299968hg38UCSC Ensembl
Outerchr11:2321043..2321198hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953032
SamplesSSM025
Known GenesC11orf21
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)esv2744002
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