A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16491416



Internal ID19354976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121949847..121950117hg38UCSC Ensembl
chr3:121668694..121668964hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3669125
Supporting Variants
Samples
Known Genes
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)essv16491416
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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