A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637850



Internal ID7024638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8837916..8849663hg38UCSC Ensembl
chr16:8931773..8943520hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3811748
hg1911748
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15372178, essv15372177, essv15372181, essv15372176, essv15372180, essv15372179
SamplesHG03212, HG02104, HG02070, NA19347, HG01615, HG02330
Known GenesPMM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637850
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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