A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10458165



Internal ID4659519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:34300879..34377598hg38UCSC Ensembl
chr2:34525946..34602665hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3876720
hg1976720
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590325
Supporting Variants
SamplesHG04186
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10458165
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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