A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3667238



Internal ID19038560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:157139720..157139720hg38UCSC Ensembl
chr5:156566731..156566731hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16489718
Samples
Known GenesMED7
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)esv3667238
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