A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667527



Internal ID9586946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:97734878..97748589hg38UCSC Ensembl
Outerchr1:97734721..97748742hg38UCSC Ensembl
Innerchr1:98200434..98214145hg19UCSC Ensembl
Outerchr1:98200277..98214298hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3814022
hg1914022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6420948
SamplesHG00325
Known GenesDPYD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667527
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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