A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16468100



Internal ID19331660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124347286..124347372hg38UCSC Ensembl
chr3:124066133..124066219hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3683358
Supporting Variants
Samples
Known GenesKALRN
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)essv16468100
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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