A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5473352



Internal ID8450755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:36224521..36228035hg38UCSC Ensembl
Outerchr13:36224484..36228085hg38UCSC Ensembl
Innerchr13:36798658..36802172hg19UCSC Ensembl
Outerchr13:36798621..36802222hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666917
Supporting Variants
SamplesNA18870
Known GenesCCDC169, CCDC169-SOHLH2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5473352
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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