A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3685762



Internal ID19057084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150475817..150475817hg38UCSC Ensembl
chr5:149855380..149855380hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16470263
Samples
Known GenesLOC102546298
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)esv3685762
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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