A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591690



Internal ID6631974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:96691743..96723015hg38UCSC Ensembl
chr2:97357480..97388752hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3831273
hg1931273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10589076
SamplesHG02811
Known GenesFER1L5, LMAN2L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591690
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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