A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10421740



Internal ID377093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18137208..18171636hg38UCSC Ensembl
chr2:18318474..18352902hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3834429
hg1934429
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589957
Supporting Variants
SamplesHG00109
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10421740
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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