A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590050



Internal ID6977378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:22805368..22810350hg38UCSC Ensembl
Innerchr2:22805386..22810332hg38UCSC Ensembl
Outerchr2:22805350..22810368hg38UCSC Ensembl
chr2:23028240..23033222hg19UCSC Ensembl
Innerchr2:23028258..23033204hg19UCSC Ensembl
Outerchr2:23028222..23033240hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg384983
hg194983
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10430722, essv10430721
SamplesHG03079, HG03073
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590050
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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