A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007606



Internal ID6719719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75546576..75546791hg38UCSC Ensembl
chr17:73542657..73542872hg19UCSC Ensembl
chr17:71054252..71054467hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38216
hg19216
hg18216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583941
SamplesHuRef
Known GenesLLGL2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007606
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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