A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3659590



Internal ID19377598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13809991..13809991hg38UCSC Ensembl
chr19:13920805..13920805hg19UCSC Ensembl
Cytoband19p13.13
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16482835
Samples
Known GenesZSWIM4
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)esv3659590
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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