A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638230



Internal ID6678328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23596807..23605086hg38UCSC Ensembl
chr16:23608128..23616407hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg388280
hg198280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15426934, essv15426933
SamplesHG00634, NA12776
Known GenesPALB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638230
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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