A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16494081



Internal ID19357641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87239316..87239404hg38UCSC Ensembl
chr6:87949034..87949122hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3672086
Supporting Variants
Samples
Known GenesZNF292
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)essv16494081
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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