A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569081



Internal ID7040463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27209521..27213362hg38UCSC Ensembl
chr17:25536547..25540388hg19UCSC Ensembl
chr17:22560674..22564515hg18UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg383842
hg193842
hg183842
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008306
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569081
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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