A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11160757



Internal ID1162573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138130790..138220069hg38UCSC Ensembl
chr3:137849632..137938911hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3889280
hg1989280
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597911
Supporting Variants
SamplesNA19923
Known GenesA4GNT, ARMC8, DBR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11160757
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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