A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674970



Internal ID9941075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:112670823..112672043hg38UCSC Ensembl
Innerchr13:113325137..113326357hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381221
hg191221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv381e199
Supporting Variantsessv5877892, essv6242825, essv6072128, essv5916839, essv5951781, essv5968383, essv6410718, essv5910097
SamplesNA11829, NA18861, NA18489, NA19152, NA18853, NA18909, NA19116, NA18505
Known GenesC13orf35
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674970
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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