A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16493986



Internal ID19357546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35210071..35210125hg38UCSC Ensembl
chr7:35249683..35249737hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3671980
Supporting Variants
Samples
Known GenesTBX20
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)essv16493986
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