A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590937



Internal ID6978265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57504977..57729470hg38UCSC Ensembl
chr2:57732112..57956605hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38224494
hg19224494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv701e214
Supporting Variantsessv10517439
SamplesHG00443
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590937
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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