A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10516799



Internal ID2778647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57171622..57224682hg38UCSC Ensembl
chr2:57398757..57451817hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3853061
hg1953061
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590914
Supporting Variants
SamplesHG02450
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10516799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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