A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678121



Internal ID9944226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6082391..6104345hg38UCSC Ensembl
chr7:6122022..6143976hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3821955
hg1921955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1183e199
Supporting Variantsessv6289116, essv6047096, essv5505466, essv6296701, essv5600180, essv6481065, essv6120684, essv5396551, essv5947343, essv6305659, essv6048675
SamplesNA19703, NA19909, NA19914, NA19443, NA19457, NA18520, NA19455, NA19834, NA19334, NA19248, NA19900
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678121
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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