A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16467749



Internal ID18984623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69258397..69258449hg38UCSC Ensembl
chr5:68554224..68554276hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3682969
Supporting Variants
Samples
Known GenesCDK7
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)essv16467749
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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