A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3671634



Internal ID19042956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70214894..70214903hg38UCSC Ensembl
chr1:70680577..70680586hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3810
hg1910
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16493674
Samples
Known GenesSRSF11
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)esv3671634
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