A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6752479



Internal ID9813713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:59041792..59042140hg38UCSC Ensembl
Outerchr11:58809265..58809613hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744559, esv2744560
Supporting Variants
SamplesSSM057
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)essv6752479
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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