A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15483188



Internal ID5485004
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638695
Supporting Variants
SamplesHG02660
Known GenesAMFR, NUDT21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15483188
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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