A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10025630



Internal ID692707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:97734783..97748635hg38UCSC Ensembl
Innerchr1:97734813..97748606hg38UCSC Ensembl
Outerchr1:97734754..97748665hg38UCSC Ensembl
chr1:98200339..98214191hg19UCSC Ensembl
Innerchr1:98200369..98214162hg19UCSC Ensembl
Outerchr1:98200310..98214221hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3813853
hg1913853
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586891
Supporting Variants
SamplesHG00325
Known GenesDPYD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10025630
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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