A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638052



Internal ID6678150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16131123..16180113hg38UCSC Ensembl
chr16:16224980..16273970hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3848991
hg1948991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15385811, essv15385810, essv15385807, essv15385808, essv15385809
SamplesNA20853, HG00334, HG03949, HG03072, HG03890
Known GenesABCC1, ABCC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638052
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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