A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1343982



Internal ID12160418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:17132538..17132593hg38UCSC Ensembl
chr16:17226395..17226450hg19UCSC Ensembl
chr16:17133896..17133951hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3710829
SamplesHuRef
Known GenesXYLT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1343982
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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