A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597781



Internal ID6638048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131272356..131472358hg38UCSC Ensembl
chr3:130991200..131191202hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38200003
hg19200003
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11151678, essv11151679
SamplesNA19197, HG03172
Known GenesLOC339874, MRPL3, NEK11, NUDT16, NUDT16P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597781
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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