A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3662007



Internal ID19380015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66697080..66697080hg38UCSC Ensembl
chr2:66924212..66924212hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16485010
Samples
Known Genes
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)esv3662007
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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