A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665146



Internal ID9584565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:22103330..22505234hg38UCSC Ensembl
Outerchr7:22103296..22505269hg38UCSC Ensembl
Innerchr7:22142948..22544853hg19UCSC Ensembl
Outerchr7:22142914..22544888hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38401974
hg19401975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5653561
SamplesHG00689
Known GenesRAPGEF5, STEAP1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665146
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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