A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11151679



Internal ID1153495
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597781
Supporting Variants
SamplesNA19197
Known GenesLOC339874, MRPL3, NEK11, NUDT16, NUDT16P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11151679
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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