A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3675893



Internal ID19393901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176530228..176530325hg38UCSC Ensembl
chr5:175957229..175957326hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16497507
Samples
Known GenesRNF44
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)esv3675893
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