A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16493442



Internal ID19357002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78238351..78238351hg38UCSC Ensembl
chr4:79159505..79159505hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3671377
Supporting Variants
Samples
Known GenesFRAS1
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)essv16493442
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer