A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592539



Internal ID6979866
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv738e214
Supporting Variantsessv10680827, essv10680825, essv10680826
SamplesHG00524, HG03873, HG03998
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592539
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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