A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv479e214



Internal ID18980654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12698561..12716092hg38UCSC Ensembl
chr16:12792418..12809949hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3817532
hg1917532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3637971, esv3637970
SamplesHG00607, HG00449, HG01976
Known GenesCPPED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv479e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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