A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638312



Internal ID7025098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27040198..27076655hg38UCSC Ensembl
chr16:27051519..27087976hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3836458
hg1936458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv499e214
Supporting Variantsessv15439253, essv15439251, essv15439261, essv15439259, essv15439252, essv15439257, essv15439249, essv15439250, essv15439256, essv15439260, essv15439255, essv15439258, essv15439254
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)esv3638312
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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