A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635988



Internal ID7022785
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15198884, essv15198886, essv15198885, essv15198883
SamplesNA18489, HG02143, HG02724, HG03039
Known GenesHERC2, OCA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635988
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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