A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665462



Internal ID9931567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40602795..40619039hg38UCSC Ensembl
Outerchr1:40602758..40619089hg38UCSC Ensembl
Innerchr1:41068467..41084711hg19UCSC Ensembl
Outerchr1:41068430..41084761hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3816332
hg1916332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv40e199
Supporting Variantsessv6539163
SamplesHG00237
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665462
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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