A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3559706



Internal ID18760782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36244777..36244838hg38UCSC Ensembl
chr13:36818914..36818975hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv101e215
Supporting Variantsessv9758453
Samples
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3559706
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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