A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612516



Internal ID6999417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:22323177..22390373hg38UCSC Ensembl
chr7:22362796..22429992hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3867197
hg1967197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12696683
SamplesHG00689
Known GenesRAPGEF5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612516
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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