A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900553



Internal ID9947518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58957660..59052689hg38UCSC Ensembl
Outerchr11:58725133..58820162hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3895030
hg1995030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744559
Supporting Variants
SamplesSSM100
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)essv6900553
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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