A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591538



Internal ID6978866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86054463..86058772hg38UCSC Ensembl
chr2:86281586..86285895hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg384310
hg194310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10568954, essv10568955, essv10568956
SamplesHG00246, HG02392, HG01479
Known GenesPOLR1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591538
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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