A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592251



Internal ID6979578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123114764..123176787hg38UCSC Ensembl
chr2:123872340..123934363hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3862024
hg1962024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10652542
SamplesHG00171
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592251
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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