A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10309570



Internal ID6372638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226795416..226803995hg38UCSC Ensembl
chr1:226983117..226991696hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg388580
hg198580
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589018
Supporting Variants
SamplesNA20314
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10309570
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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