A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589705



Internal ID6977034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5407541..5413615hg38UCSC Ensembl
Innerchr2:5407541..5413615hg38UCSC Ensembl
Outerchr2:5407041..5414115hg38UCSC Ensembl
chr2:5547674..5553748hg19UCSC Ensembl
Innerchr2:5547674..5553748hg19UCSC Ensembl
Outerchr2:5547174..5554248hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg386075
hg196075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10400719
SamplesNA18613
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589705
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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