A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3659105



Internal ID19377113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59482875..59482875hg38UCSC Ensembl
chr18:57150107..57150107hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16482399
Samples
Known GenesCCBE1
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)esv3659105
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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