A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638351



Internal ID6678449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28973792..29014153hg38UCSC Ensembl
chr16:28985113..29025474hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3840362
hg1940362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15441246
SamplesHG00178
Known GenesLAT, SPNS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638351
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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