A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3688332



Internal ID19406340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78424071..78424071hg38UCSC Ensembl
chr7:78053388..78053388hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38202
hg19202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16472576
Samples
Known GenesMAGI2
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)esv3688332
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