A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10401752



Internal ID857641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5869113..5891457hg38UCSC Ensembl
chr2:6009245..6031589hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3822345
hg1922345
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589714
Supporting Variants
SamplesHG00448
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10401752
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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