A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15198886



Internal ID5200702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:28098445..28194723hg38UCSC Ensembl
chr15:28343591..28439869hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg3896279
hg1996279
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635988
Supporting Variants
SamplesNA18489
Known GenesHERC2, OCA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15198886
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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