A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638695



Internal ID7025480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:56413924..56440936hg38UCSC Ensembl
chr16:56447836..56474848hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3827013
hg1927013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15483188
SamplesHG02660
Known GenesAMFR, NUDT21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638695
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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