A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3370206



Internal ID15217182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70495330..70498528hg38UCSC Ensembl
Innerchr7:70496330..70497528hg38UCSC Ensembl
Outerchr7:70494330..70499528hg38UCSC Ensembl
chr7:69960316..69963514hg19UCSC Ensembl
Innerchr7:69961316..69962514hg19UCSC Ensembl
Outerchr7:69959316..69964514hg19UCSC Ensembl
chr7:69598252..69601450hg18UCSC Ensembl
Innerchr7:69599252..69600450hg18UCSC Ensembl
Outerchr7:69597252..69602450hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696025
SamplesNA19240
Known GenesAUTS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3370206
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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