A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596253



Internal ID6983570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58621679..58677821hg38UCSC Ensembl
chr3:58607406..58663548hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3856143
hg1956143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11023050
SamplesHG03696
Known GenesFAM107A, FAM3D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596253
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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