A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594443



Internal ID6981763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223216313..223220367hg38UCSC Ensembl
chr2:224081031..224085085hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg384055
hg194055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10864583, essv10864586, essv10864584, essv10864585
SamplesNA19031, NA19085, HG02053, NA19080
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594443
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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