A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008894



Internal ID7073757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:58957889..58966949hg38UCSC Ensembl
Outerchr17:57035250..57044310hg19UCSC Ensembl
Outerchr17:54390032..54399092hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg389061
hg199061
hg189061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565013
SamplesHuRef
Known GenesPPM1E
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008894
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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