A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3662424



Internal ID19380432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71918064..71918064hg38UCSC Ensembl
chr2:72145194..72145194hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16485385
Samples
Known Genes
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)esv3662424
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