A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6451951



Internal ID9850338
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 Flag1
Merged StatusS
Merged Variantsesv2661030
Supporting Variants
SamplesNA20517
Known GenesRAPGEF5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6451951
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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