A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16464227



Internal ID18981101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127500293..127500359hg38UCSC Ensembl
chr9:130262572..130262638hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3688315
Supporting Variants
Samples
Known GenesLRSAM1
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)essv16464227
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