A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589587



Internal ID6976916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23163..99614hg38UCSC Ensembl
chr2:23163..99614hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3876452
hg1976452
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10383033, essv10383034, essv10383032
SamplesHG02888, HG03696, HG04020
Known GenesFAM110C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589587
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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