A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10680826



Internal ID4331140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133757183..133784326hg38UCSC Ensembl
chr2:134514754..134541897hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3827144
hg1927144
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592539
Supporting Variants
SamplesHG03873
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10680826
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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