A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11312946



Internal ID5804883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:198025659..198052867hg38UCSC Ensembl
chr3:197752530..197779738hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3827209
hg1927209
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599333
Supporting Variants
SamplesNA19184
Known GenesLMLN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11312946
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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