A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674477



Internal ID9940582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110088882..110111061hg38UCSC Ensembl
chr13:110741229..110763408hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3822180
hg1922180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6338041, essv6262939, essv6573323, essv5674486, essv6254806
SamplesHG01051, HG00641, HG01067, HG01187, HG01190
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674477
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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