A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10401748



Internal ID6529703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5744933..5761768hg38UCSC Ensembl
chr2:5885065..5901900hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3816836
hg1916836
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589712
Supporting Variants
SamplesNA20581
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10401748
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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