A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678220



Internal ID9944325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22407123..22414089hg38UCSC Ensembl
chr7:22446742..22453708hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg386967
hg196967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6596982
SamplesHG00692
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678220
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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