A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744044



Internal ID10325014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:3654473..3654736hg38UCSC Ensembl
Outerchr11:3675703..3675966hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6716613, essv6884955, essv6783383, essv6900495, essv6787585, essv6827514, essv6688127, essv6908667, essv6856914, essv6684912, essv6965489, essv6724323, essv6677631
SamplesSSM100, SSM027, SSM045, SSM087, SSM069, SSM035, SSM032, SSM014, SSM068, SSM080, SSM095, SSM034, SSM043
Known GenesART1
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)esv2744044
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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