A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590264



Internal ID6630551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32754098..32898270hg38UCSC Ensembl
chr2:32979165..33123337hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38144173
hg19144173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447745, essv10447744
SamplesHG00275, HG03082
Known GenesLINC00486, TTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590264
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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