A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675467



Internal ID9594886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:117375409..117379112hg38UCSC Ensembl
Outerchr7:117375372..117379162hg38UCSC Ensembl
Innerchr7:117015463..117019166hg19UCSC Ensembl
Outerchr7:117015426..117019216hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg383791
hg193791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5406400
SamplesNA19474
Known GenesASZ1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675467
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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