A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550316



Internal ID18751392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36232633..36232724hg38UCSC Ensembl
chr13:36806770..36806861hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749063
Samples
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550316
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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