A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15378561



Internal ID2080664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13543537..13555832hg38UCSC Ensembl
chr16:13637394..13649689hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3812296
hg1912296
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637985
Supporting Variants
SamplesHG01889
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15378561
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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