A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3684151



Internal ID19402159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:79966892..79972938hg38UCSC Ensembl
chr4:80888046..80894092hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg386047
hg196047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16468812
Samples
Known GenesANTXR2
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)esv3684151
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