A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744811



Internal ID10325781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:77451604..77451904hg38UCSC Ensembl
Outerchr11:77162649..77162949hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894564
SamplesSSM098
Known GenesPAK1
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)esv2744811
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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