A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674185



Internal ID9940290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:96747120..96762811hg38UCSC Ensembl
Outerchr6:96747083..96762861hg38UCSC Ensembl
Innerchr6:97194996..97210687hg19UCSC Ensembl
Outerchr6:97194959..97210737hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3815779
hg1915779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5963185, essv6115751
SamplesHG00182, NA20810
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674185
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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