A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637704



Internal ID7024493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4748964..4752061hg38UCSC Ensembl
chr16:4798965..4802062hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383098
hg193098
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15363801, essv15363804, essv15363802, essv15363806, essv15363807, essv15363805, essv15363803
SamplesHG01485, HG01359, HG01944, HG00717, NA20832, HG01708, NA19321
Known GenesC16orf71, ZNF500
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637704
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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