A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744561



Internal ID10325531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:59041793..59042163hg38UCSC Ensembl
Outerchr11:58809266..58809636hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38371
hg19371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842316, essv6916019, essv6908746, essv6819552, essv6898220, essv6672961, essv6681462, essv6857015, essv6712709, essv6686521, essv6746742
SamplesSSM087, SSM084, SSM031, SSM001, SSM014, SSM033, SSM078, SSM016, SSM005, SSM055, SSM012
Known GenesLOC283194
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)esv2744561
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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