A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15377088



Internal ID5378904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11832692..11837191hg38UCSC Ensembl
chr16:11926549..11931048hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637942
Supporting Variants
SamplesHG01777
Known GenesRSL1D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15377088
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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