A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745293



Internal ID9979577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133140813..133141017hg38UCSC Ensembl
Outerchr11:133010708..133010912hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944878, essv6724446, essv6758191, essv6712936, essv6834837, essv6894602, essv6970762, essv6931779, essv6891238, essv6791803, essv6870682
SamplesSSM082, SSM042, SSM090, SSM020, SSM045, SSM097, SSM023, SSM004, SSM098, SSM059, SSM070
Known GenesOPCML
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)esv2745293
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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