A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3570749



Internal ID6695445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6859120..6859186hg38UCSC Ensembl
chr16:6909121..6909187hg19UCSC Ensembl
chr16:6849122..6849188hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009215
Supporting Variants
SamplesHuRef
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3570749
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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