A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3682969



Internal ID19054291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69258397..69258449hg38UCSC Ensembl
chr5:68554224..68554276hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16467749
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)esv3682969
Frequency
Sample Size20
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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