A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11004424



Internal ID3712804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47974868..47987845hg38UCSC Ensembl
chr3:48016358..48029335hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3812978
hg1912978
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596097
Supporting Variants
SamplesHG03313
Known GenesMAP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11004424
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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