A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6944800



Internal ID9706729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:59041718..59085585hg38UCSC Ensembl
Outerchr11:58809191..58853058hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3843868
hg1943868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744559, esv2744560
Supporting Variants
SamplesSSM023
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)essv6944800
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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