A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637759



Internal ID6677860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6725003..6755176hg38UCSC Ensembl
Innerchr16:6725003..6755176hg38UCSC Ensembl
Outerchr16:6724503..6755676hg38UCSC Ensembl
chr16:6775004..6805177hg19UCSC Ensembl
Innerchr16:6775004..6805177hg19UCSC Ensembl
Outerchr16:6774504..6805677hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3830174
hg1930174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15364823, essv15364826, essv15364822, essv15364824, essv15364825
SamplesNA20522, NA18501, HG03237, HG00311, HG02332
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637759
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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