A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10517432



Internal ID519248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57498276..57680822hg38UCSC Ensembl
chr2:57725411..57907957hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38182547
hg19182547
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590934
Supporting Variants
SamplesNA18950
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10517432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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