A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16478579



Internal ID19342139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42048458..42048458hg38UCSC Ensembl
chr13:42622594..42622594hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3654861
Supporting Variants
Samples
Known GenesDGKH
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)essv16478579
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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