A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613597



Internal ID7000493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:70043441..70065224hg38UCSC Ensembl
chr7:69508427..69530210hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3821784
hg1921784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12827836
SamplesHG03163
Known GenesAUTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613597
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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