A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590023



Internal ID6977351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21757358..21821248hg38UCSC Ensembl
Innerchr2:21757372..21821234hg38UCSC Ensembl
Outerchr2:21757344..21821262hg38UCSC Ensembl
chr2:21980230..22044120hg19UCSC Ensembl
Innerchr2:21980244..22044106hg19UCSC Ensembl
Outerchr2:21980216..22044134hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3863891
hg1963891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10429831
SamplesNA20904
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590023
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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