A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16501825



Internal ID19018699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1958372..1958440hg38UCSC Ensembl
chr12:2067538..2067606hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3680690
Supporting Variants
Samples
Known GenesDCP1B
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)essv16501825
Frequency
Sample Size20
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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