A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674046



Internal ID9940151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:75937427..75994799hg38UCSC Ensembl
Outerchr6:75937390..75994849hg38UCSC Ensembl
Innerchr6:76647144..76704516hg19UCSC Ensembl
Outerchr6:76647107..76704566hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3857460
hg1957460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5408351
SamplesNA20505
Known GenesIMPG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674046
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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