A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590846



Internal ID6978174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54779526..54913111hg38UCSC Ensembl
Innerchr2:54779538..54913099hg38UCSC Ensembl
Outerchr2:54779514..54913123hg38UCSC Ensembl
chr2:55006663..55140248hg19UCSC Ensembl
Innerchr2:55006675..55140236hg19UCSC Ensembl
Outerchr2:55006651..55140260hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38133586
hg19133586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10511163
SamplesHG03951
Known GenesEML6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590846
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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