A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657518



Internal ID2890605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230703881..230706718hg38UCSC Ensembl
Outerchr1:230703844..230706768hg38UCSC Ensembl
Innerchr1:230839627..230842464hg19UCSC Ensembl
Outerchr1:230839590..230842514hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382925
hg192925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6399317
SamplesHG00557
Known GenesAGT
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
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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