A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590914



Internal ID6978242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57171622..57224682hg38UCSC Ensembl
chr2:57398757..57451817hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3853061
hg1953061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv698e214
Supporting Variantsessv10516799
SamplesHG02450
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590914
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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