A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593242



Internal ID6980566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165813225..165817765hg38UCSC Ensembl
Innerchr2:165813228..165817762hg38UCSC Ensembl
Outerchr2:165813222..165817768hg38UCSC Ensembl
chr2:166669735..166674275hg19UCSC Ensembl
Innerchr2:166669738..166674272hg19UCSC Ensembl
Outerchr2:166669732..166674278hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg384541
hg194541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10747303
SamplesNA18622
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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