A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15505895



Internal ID5507711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70252544..70262994hg38UCSC Ensembl
chr16:70286447..70296897hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3810451
hg1910451
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638952
Supporting Variants
SamplesNA21091
Known GenesAARS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15505895
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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