A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744605



Internal ID9978889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:62528571..62528826hg38UCSC Ensembl
Outerchr11:62296043..62296298hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885005
SamplesSSM095
Known GenesAHNAK
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)esv2744605
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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