A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745295



Internal ID9979579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133231663..133232498hg38UCSC Ensembl
Outerchr11:133101558..133102393hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920101, essv6716736, essv6851092, essv6924279, essv6800161, essv6912536, essv6931780, essv6732072, essv6970773, essv6772002, essv6695490, essv6959179, essv6904867, essv6771364, essv6953166, essv6795975, essv6977076, essv6834838, essv6965697
SamplesSSM008, SSM071, SSM027, SSM065, SSM013, SSM047, SSM018, SSM029, SSM026, SSM017, SSM086, SSM072, SSM082, SSM020, SSM015, SSM037, SSM025, SSM004, SSM043
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)esv2745295
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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