A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674771



Internal ID9940876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34372015..34373342hg38UCSC Ensembl
chr6:34339792..34341119hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381328
hg191328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6000114, essv6491001, essv6282731
SamplesNA18616, NA18543, HG00656
Known GenesNUDT3, RPS10-NUDT3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674771
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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