A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589793



Internal ID6977123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10193998..10246729hg38UCSC Ensembl
chr2:10334124..10386855hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3852732
hg1952732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10406870, essv10406869, essv10406871
SamplesHG00361, NA12043, HG00269
Known GenesC2orf48
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589793
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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