A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590312



Internal ID6977641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:34047183..34064697hg38UCSC Ensembl
Innerchr2:34047183..34064697hg38UCSC Ensembl
Outerchr2:34046683..34065197hg38UCSC Ensembl
chr2:34272250..34289764hg19UCSC Ensembl
Innerchr2:34272250..34289764hg19UCSC Ensembl
Outerchr2:34271750..34290264hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3817515
hg1917515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10455947
SamplesHG02763
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590312
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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