A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv499e214



Internal ID22756393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27040198..27080488hg38UCSC Ensembl
chr16:27051519..27091809hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3840291
hg1940291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3638314, esv3638312
SamplesNA20864, HG03640, HG03911, HG02786, HG03491, HG03021, HG03871, HG02783, HG03969, HG02684, HG03850, HG04090, HG04209
Known GenesC16orf82
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv499e214
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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