A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16482599



Internal ID19346159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2322865..2322865hg38UCSC Ensembl
chr19:2322864..2322864hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3659327
Supporting Variants
Samples
Known GenesLSM7
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)essv16482599
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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