A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10512183



Internal ID3686882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55323852..55336816hg19UCSC Ensembl
Innerchr2:55323854..55336815hg19UCSC Ensembl
Outerchr2:55323851..55336818hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3812965
hg19n/a
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590851
Supporting Variants
SamplesHG03294
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10512183
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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