A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6746722



Internal ID9808129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:43887925..43888317hg38UCSC Ensembl
Outerchr11:43909475..43909867hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744413
Supporting Variants
SamplesSSM055
Known GenesALKBH3
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)essv6746722
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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