A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10383034



Internal ID4522328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:23163..99614hg38UCSC Ensembl
chr2:23163..99614hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3876452
hg1976452
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589587
Supporting Variants
SamplesHG04020
Known GenesFAM110C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10383034
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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