A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637758



Internal ID6677859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6708703..6712424hg38UCSC Ensembl
Innerchr16:6708744..6712383hg38UCSC Ensembl
Outerchr16:6708662..6712465hg38UCSC Ensembl
chr16:6758704..6762425hg19UCSC Ensembl
Innerchr16:6758745..6762384hg19UCSC Ensembl
Outerchr16:6758663..6762466hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383722
hg193722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15364821, essv15364820, essv15364819
SamplesNA20522, HG02239, HG03237
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637758
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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