A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743887



Internal ID9978171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1059687..1060110hg38UCSC Ensembl
Outerchr11:1059687..1060110hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6684901, essv6716597, essv6775536, essv6768347, essv6720500, essv6948871, essv6831114, essv6919965, essv6677619, essv6904726, essv6691431, essv6800005, essv6709329, essv6940119, essv6976791, essv6791657, essv6935916, essv6931626, essv6706032, essv6924138, essv6783362
SamplesSSM036, SSM024, SSM064, SSM013, SSM041, SSM021, SSM018, SSM029, SSM017, SSM032, SSM044, SSM066, SSM068, SSM081, SSM040, SSM072, SSM020, SSM022, SSM070, SSM034, SSM043
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)esv2743887
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer