A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743971



Internal ID9978255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1873786..1874059hg38UCSC Ensembl
Outerchr11:1895016..1895289hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863997, essv6775546, essv6771889, essv6958966, essv6746682, essv6827505
SamplesSSM011, SSM065, SSM026, SSM066, SSM080, SSM055
Known GenesLSP1
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)esv2743971
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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