A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10720016



Internal ID2498227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154975526..154987309hg38UCSC Ensembl
chr2:155832038..155843821hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3811784
hg1911784
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593010
Supporting Variants
SamplesHG02220
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10720016
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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