A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744562



Internal ID10325532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:59048565..59107955hg38UCSC Ensembl
Outerchr11:58816038..58875428hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3859391
hg1959391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6737420, essv6768407
SamplesSSM064, SSM007
Known GenesFAM111B, LOC283194
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)esv2744562
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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