A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3172209



Internal ID11191875
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 Variantsessv7441776
SamplesHuRef
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3172209
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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