A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590256



Internal ID6630543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32613680..32723535hg38UCSC Ensembl
chr2:32838747..32948602hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38109856
hg19109856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10447724, essv10447722, essv10447723, essv10447725
SamplesNA18628, NA20847, HG00275, HG03082
Known GenesBIRC6, MIR4765, TTC27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590256
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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