A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745169



Internal ID9979453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:123358986..123359636hg38UCSC Ensembl
Outerchr11:123229694..123230344hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38651
hg19651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6912529, essv6805109, essv6791792, essv6668173, essv6838561, essv6977048, essv6970684, essv6732065, essv6771309, essv6959162, essv6936057, essv6695480
SamplesSSM008, SSM083, SSM009, SSM021, SSM047, SSM029, SSM026, SSM015, SSM037, SSM070, SSM004, SSM030
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)esv2745169
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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