A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16497493



Internal ID19014367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:174068676..174068889hg38UCSC Ensembl
chr5:173495679..173495892hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3675877
Supporting Variants
Samples
Known GenesHMP19
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)essv16497493
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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