A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16483082



Internal ID19346642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63043956..63044355hg38UCSC Ensembl
chr20:61675308..61675707hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3659864
Supporting Variants
Samples
Known GenesLINC01056, LOC63930
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)essv16483082
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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