A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674452



Internal ID9593871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:153517956..153519951hg38UCSC Ensembl
Outerchr5:153517799..153520104hg38UCSC Ensembl
Innerchr5:152897516..152899511hg19UCSC Ensembl
Outerchr5:152897359..152899664hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg382306
hg192306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5687643, essv6206881
SamplesHG00448, HG00701
Known GenesGRIA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674452
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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