A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672802



Internal ID9592221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6994905..7006258hg38UCSC Ensembl
Outerchr16:6994868..7006308hg38UCSC Ensembl
Innerchr16:7044906..7056259hg19UCSC Ensembl
Outerchr16:7044869..7056309hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3811441
hg1911441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5782862
SamplesNA18951
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672802
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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