A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3660955



Internal ID19378963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63881054..63881054hg38UCSC Ensembl
chr20:62512407..62512407hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16484063
Samples
Known GenesTPD52L2
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)esv3660955
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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