A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744095



Internal ID10325065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:9623376..10133785hg38UCSC Ensembl
Outerchr11:9644923..10155332hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38510410
hg19510410
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6743897, essv6735066, essv6876519, essv6931648, essv6746695, essv6737020, essv6763275, essv6845817, essv6746694, essv6737756, essv6770287, essv6970612, essv6912422, essv6755403, essv6737755, essv6976834, essv6763274, essv6731952, essv6940143, essv6677639, essv6953045, essv6912421, essv6970613, essv6668108, essv6976833
SamplesSSM008, SSM050, SSM058, SSM028, SSM092, SSM047, SSM029, SSM062, SSM032, SSM085, SSM020, SSM007, SSM015, SSM053, SSM022, SSM055, SSM025, SSM049, SSM030
Known GenesLOC440028, SBF2, SBF2-AS1, SWAP70
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)esv2744095
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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