A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592538



Internal ID6979865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:133757151..133780274hg38UCSC Ensembl
chr2:134514722..134537845hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3823124
hg1923124
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv738e214
Supporting Variantsessv10680824, essv10680823
SamplesHG03873, HG03998
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592538
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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