A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1617393



Internal ID12433827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7186502..7186580hg38UCSC Ensembl
chr16:7236503..7236581hg19UCSC Ensembl
chr16:7176504..7176582hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3803340
SamplesHuRef
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1617393
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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