A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590090



Internal ID6977418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25194151..25195403hg38UCSC Ensembl
Innerchr2:25194193..25195362hg38UCSC Ensembl
Outerchr2:25194110..25195445hg38UCSC Ensembl
chr2:25417020..25418272hg19UCSC Ensembl
Innerchr2:25417062..25418231hg19UCSC Ensembl
Outerchr2:25416979..25418314hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381253
hg191253
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433122
SamplesHG02374
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590090
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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