A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393213



Internal ID15240178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70495330..70497428hg38UCSC Ensembl
Innerchr7:70496330..70496428hg38UCSC Ensembl
Outerchr7:70494330..70498428hg38UCSC Ensembl
chr7:69960316..69962414hg19UCSC Ensembl
Innerchr7:69961316..69961414hg19UCSC Ensembl
Outerchr7:69959316..69963414hg19UCSC Ensembl
chr7:69598252..69600350hg18UCSC Ensembl
Innerchr7:69599252..69599350hg18UCSC Ensembl
Outerchr7:69597252..69601350hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3849e59
Supporting Variantsessv8696024
SamplesNA19239
Known GenesAUTS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393213
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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