A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6819589



Internal ID9872550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:94151800..94152290hg38UCSC Ensembl
Outerchr11:93884966..93885456hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38491
hg19491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744929
Supporting Variants
SamplesSSM078
Known GenesPANX1
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)essv6819589
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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