A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668406



Internal ID9934511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:80424611..80428423hg38UCSC Ensembl
chr13:80998746..81002558hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg383813
hg193813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6452173, essv5822765
SamplesHG00448, NA18612
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668406
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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