A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590171



Internal ID6977500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29309924..29462782hg38UCSC Ensembl
chr2:29532790..29685648hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38152859
hg19152859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10438535
SamplesNA18579
Known GenesALK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590171
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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