A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10400719



Internal ID5197551
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589705
Supporting Variants
SamplesNA18613
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10400719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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