A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3652011



Internal ID19370019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102000595..102000595hg38UCSC Ensembl
chr10:103760352..103760352hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16476013
Samples
Known GenesC10orf76
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)esv3652011
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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