A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674689



Internal ID9594108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:71258563..71265167hg38UCSC Ensembl
Outerchr7:71258526..71265217hg38UCSC Ensembl
Innerchr7:70723549..70730153hg19UCSC Ensembl
Outerchr7:70723512..70730203hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg386692
hg196692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5944858
SamplesNA20503
Known GenesWBSCR17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674689
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer