A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589942



Internal ID6977271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:17289609..17292688hg38UCSC Ensembl
Innerchr2:17289627..17292671hg38UCSC Ensembl
Outerchr2:17289592..17292706hg38UCSC Ensembl
chr2:17470876..17473955hg19UCSC Ensembl
Innerchr2:17470894..17473938hg19UCSC Ensembl
Outerchr2:17470859..17473973hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg383080
hg193080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10420115
SamplesNA20524
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589942
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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