A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3675035



Internal ID19393043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47365633..47365637hg38UCSC Ensembl
chr1:47831305..47831309hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg385
hg195
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16496735
Samples
Known GenesCMPK1
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)esv3675035
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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