A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637755



Internal ID6677856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6629395..6820355hg38UCSC Ensembl
Innerchr16:6629445..6820305hg38UCSC Ensembl
Outerchr16:6629301..6820449hg38UCSC Ensembl
chr16:6679396..6870356hg19UCSC Ensembl
Innerchr16:6679446..6870306hg19UCSC Ensembl
Outerchr16:6679302..6870450hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38190961
hg19190961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv476e214
Supporting Variantsessv15364813, essv15364812, essv15364811
SamplesHG03237, HG00311, NA20522
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637755
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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