A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009420



Internal ID7059349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:312146..328363hg38UCSC Ensembl
Outerchr17:161937..178154hg19UCSC Ensembl
Outerchr17:161937..178154hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3811504
hg1911504
hg1811504
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563480
SamplesHuRef
Known GenesRPH3AL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009420
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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