A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010969



Internal ID7074920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17400804..17405433hg38UCSC Ensembl
Outerchr17:17304118..17308747hg19UCSC Ensembl
Outerchr17:17244843..17249472hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384630
hg194630
hg184630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564774
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010969
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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