A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676666



Internal ID9942771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116213756..116216635hg38UCSC Ensembl
chr7:115853810..115856689hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg382880
hg192880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6489381, essv5584055, essv6476632, essv6519741, essv6259242, essv6329128
SamplesNA19700, NA19374, NA19448, NA19404, NA19403, NA19347
Known GenesTES
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676666
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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