A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674446



Internal ID9593865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:129445789..129446741hg38UCSC Ensembl
Outerchr7:129445752..129446791hg38UCSC Ensembl
Innerchr7:129085630..129086582hg19UCSC Ensembl
Outerchr7:129085593..129086632hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg381040
hg191040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6344595
SamplesNA12154
Known GenesSTRIP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674446
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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