A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3652339



Internal ID19370347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1596831..1596831hg38UCSC Ensembl
chr11:1618061..1618061hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16476308
Samples
Known GenesKRTAP5-AS1, MOB2
MethodSequencing
Analysisde novo assemblies produced from SoapDenovo2 were aligned to GRC37 using LAST and input into SoapAsmVar for population-wide structural variation detection. The method is described in the publication
PlatformIllumina HiSeq 2000
Comments
ReferenceBesenbacher_et_al_2015
Pubmed ID25597990
Accession Number(s)esv3652339
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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