A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3655865



Internal ID19027187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31324006..31324094hg38UCSC Ensembl
chr18:28903969..28904057hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16479482
Samples
Known GenesDSG1
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)esv3655865
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer