A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3653433



Internal ID19024755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220573872..220573872hg38UCSC Ensembl
chr1:220747214..220747214hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16477294
Samples
Known GenesMARK1
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)esv3653433
Frequency
Sample Size20
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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