A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591717



Internal ID6632001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97624484..97660192hg38UCSC Ensembl
chr2:98240947..98276655hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3835709
hg1935709
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10592738
SamplesNA12005
Known GenesACTR1B, COX5B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591717
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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