A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1394865



Internal ID12211301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6636773..6636826hg38UCSC Ensembl
chr16:6686774..6686827hg19UCSC Ensembl
chr16:6626775..6626828hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3889020
SamplesHuRef
Known GenesRBFOX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1394865
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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