A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583763



Internal ID6708459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109107719..109108527hg38UCSC Ensembl
chr6:109428922..109429730hg19UCSC Ensembl
chr6:109535615..109536423hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38809
hg19809
hg18809
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993225
Supporting Variants
SamplesHuRef
Known GenesCEP57L1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583763
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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