A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3652012



Internal ID19023334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102142400..102142400hg38UCSC Ensembl
chr10:103902157..103902157hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16476014
Samples
Known GenesPPRC1
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)esv3652012
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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