A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3672242



Internal ID19390250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23355558..23355610hg38UCSC Ensembl
chr8:23213071..23213123hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16494221
Samples
Known GenesLOC100507156, LOXL2
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)esv3672242
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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