A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594607



Internal ID6981927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230662160..230665635hg38UCSC Ensembl
Innerchr2:230662160..230665635hg38UCSC Ensembl
Outerchr2:230662073..230665819hg38UCSC Ensembl
chr2:231526875..231530350hg19UCSC Ensembl
Innerchr2:231526875..231530350hg19UCSC Ensembl
Outerchr2:231526788..231530534hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383476
hg193476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10875181, essv10875182, essv10875183
SamplesNA19383, HG02479, HG03538
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594607
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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