A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583941



Internal ID6708637
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007606
Supporting Variants
SamplesHuRef
Known GenesLLGL2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583941
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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