A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6800007



Internal ID9855521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1396050..1396371hg38UCSC Ensembl
Outerchr11:1417280..1417601hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743878, esv2743915
Supporting Variants
SamplesSSM072
Known GenesBRSK2
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)essv6800007
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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