A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744303



Internal ID10325273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:28985589..28991339hg38UCSC Ensembl
Outerchr11:29007136..29012886hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg385751
hg195751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6935962, essv6804421, essv6765677, essv6768374, essv6710088, essv6897909, essv6755418, essv6749559, essv6752450, essv6746711, essv6763285, essv6931663, essv6833654, essv6819510, essv6758112, essv6915980, essv6743912, essv6959019, essv6735080, essv6740928, essv6856961, essv6668119, essv6845830
SamplesSSM059, SSM064, SSM087, SSM009, SSM057, SSM058, SSM021, SSM062, SSM026, SSM006, SSM085, SSM020, SSM078, SSM016, SSM053, SSM010, SSM055, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
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)esv2744303
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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