A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744115



Internal ID9978399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:12131006..12131322hg38UCSC Ensembl
Outerchr11:12152553..12152869hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827529, essv6850899, essv6965499, essv6677643, essv6819491, essv6688135, essv6900503, essv6908676, essv6720525, essv6702256, essv6976839, essv6862172, essv6958991, essv6864176, essv6866913, essv6856929, essv6684917, essv6944718, essv6894496
SamplesSSM027, SSM086, SSM078, SSM088, SSM089, SSM035, SSM032, SSM039, SSM100, SSM011, SSM029, SSM034, SSM087, SSM023, SSM044, SSM026, SSM014, SSM098, SSM080
Known GenesMICAL2
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)esv2744115
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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