A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637754



Internal ID6677855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6628342..6775853hg38UCSC Ensembl
chr16:6678343..6825854hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38147512
hg19147512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv476e214
Supporting Variantsessv15364810, essv15364809
SamplesHG03237, NA20522
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637754
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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