A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808985



Internal ID13647381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:97748410..97748410hg38UCSC Ensembl
Innerchr1:97748409..97748411hg38UCSC Ensembl
Outerchr1:97748300..97748530hg38UCSC Ensembl
chr1:98213966..98213966hg19UCSC Ensembl
Innerchr1:98213965..98213967hg19UCSC Ensembl
Outerchr1:98213856..98214086hg19UCSC Ensembl
chr1:97986554..97986554hg18UCSC Ensembl
Innerchr1:97986555..97986553hg18UCSC Ensembl
Outerchr1:97986444..97986674hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38750
hg19750
hg18750
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3384589
Supporting Variants
SamplesNA12878
Known GenesDPYD
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808985
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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