A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16476475



Internal ID18993349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:26671084..26671084hg38UCSC Ensembl
chr11:26692631..26692631hg19UCSC Ensembl
Cytoband11p14.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3652524
Supporting Variants
Samples
Known GenesSLC5A12
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)essv16476475
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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