A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16476507



Internal ID19340067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:32846956..32846956hg38UCSC Ensembl
chr11:32868502..32868502hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3652560
Supporting Variants
Samples
Known GenesPRRG4
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)essv16476507
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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