A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638348



Internal ID6678446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28841706..28861977hg38UCSC Ensembl
chr16:28853027..28873298hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3820272
hg1920272
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15441240
SamplesHG00178
Known GenesMIR4721, TUFM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638348
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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