A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594329



Internal ID6634605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218142358..218196924hg38UCSC Ensembl
chr2:219007081..219061647hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3854567
hg1954567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10850359
SamplesHG03722
Known GenesCXCR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594329
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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