A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745296



Internal ID9979580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:133231738..133232158hg38UCSC Ensembl
Outerchr11:133101633..133102053hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv158e201
Supporting Variantsessv6959179, essv6851092, essv6953166, essv6795975, essv6977076, essv6965697, essv6800161, essv6931780, essv6970773, essv6924279, essv6732072, essv6912536, essv6834838, essv6772002
SamplesSSM065, SSM027, SSM082, SSM086, SSM025, SSM072, SSM020, SSM071, SSM029, SSM047, SSM004, SSM015, SSM026, SSM018
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)esv2745296
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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