A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15481292



Internal ID1129188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55695650..55750572hg38UCSC Ensembl
chr16:55729562..55784484hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3854923
hg1954923
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638684
Supporting Variants
SamplesHG00851
Known GenesCES1P2, SLC6A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15481292
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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