A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11160759



Internal ID6330405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138161103..138213569hg38UCSC Ensembl
chr3:137879945..137932411hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg3852467
hg1952467
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597913
Supporting Variants
SamplesNA19923
Known GenesARMC8, DBR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11160759
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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