A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671981



Internal ID9938086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36279277..36281365hg38UCSC Ensembl
chr13:36853414..36855502hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg382089
hg192089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6091684
SamplesNA20508
Known GenesCCDC169, CCDC169-SOHLH2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671981
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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