A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16501731



Internal ID19018605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126921580..126921752hg38UCSC Ensembl
chr11:126791476..126791648hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3680586
Supporting Variants
Samples
Known GenesKIRREL3
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)essv16501731
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer