A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594066



Internal ID6981387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206376798..206378608hg38UCSC Ensembl
Innerchr2:206376808..206378598hg38UCSC Ensembl
Outerchr2:206376788..206378618hg38UCSC Ensembl
chr2:207241522..207243332hg19UCSC Ensembl
Innerchr2:207241532..207243322hg19UCSC Ensembl
Outerchr2:207241512..207243342hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381811
hg191811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10828690, essv10828692, essv10828691
SamplesHG03875, NA19072, HG03716
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594066
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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