A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3673618



Internal ID19044940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37009586..37009813hg38UCSC Ensembl
chr17:35366885..35367112hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16495460
Samples
Known GenesAATF
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)esv3673618
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