A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16469822



Internal ID19333382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79278846..79278846hg38UCSC Ensembl
chr5:78574669..78574669hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3685273
Supporting Variants
Samples
Known GenesJMY
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)essv16469822
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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