A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10789743



Internal ID5937805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:184492826..184543656hg38UCSC Ensembl
chr2:185357553..185408383hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3850831
hg1950831
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593620
Supporting Variants
SamplesNA19350
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10789743
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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