A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16497100



Internal ID19360660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138736649..138736705hg38UCSC Ensembl
chr6:139057786..139057842hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3675439
Supporting Variants
Samples
Known GenesLOC100507462
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)essv16497100
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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