A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661030



Internal ID9927135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22215002..22215846hg38UCSC Ensembl
chr7:22254621..22255465hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38845
hg19845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6451951
SamplesNA20517
Known GenesRAPGEF5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661030
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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