A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993111



Internal ID6729072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87726206..87726542hg38UCSC Ensembl
chr16:87759812..87760148hg19UCSC Ensembl
chr16:86317313..86317649hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg38337
hg19337
hg18337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3575102
SamplesHuRef
Known GenesKLHDC4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993111
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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