A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594553



Internal ID6981873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228425611..228440398hg38UCSC Ensembl
Innerchr2:228425611..228440398hg38UCSC Ensembl
Outerchr2:228425111..228440898hg38UCSC Ensembl
chr2:229290327..229305114hg19UCSC Ensembl
Innerchr2:229290327..229305114hg19UCSC Ensembl
Outerchr2:229289827..229305614hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3814788
hg1914788
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10872247
SamplesNA19437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594553
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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