A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590204



Internal ID6977533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30649729..30659426hg38UCSC Ensembl
chr2:30872595..30882292hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg389698
hg199698
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10442258, essv10442259
SamplesNA18534, HG00956
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590204
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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