A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676479



Internal ID9942584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:49314084..49327372hg38UCSC Ensembl
Outerchr6:49313927..49327525hg38UCSC Ensembl
Innerchr6:49281753..49295040hg19UCSC Ensembl
Outerchr6:49281596..49295193hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3813599
hg1913598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6224775, essv5722915
SamplesNA18916, NA19172
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676479
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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