A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657518



Internal ID4701852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230839627..230842464hg19UCSC Ensembl
Outerchr1:230839590..230842514hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv6399317
SamplesHG00557
Known GenesAGT
Method
Analysis
Platform
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657518
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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