A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715948



Internal ID5063238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:40489971..40490508hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6743532, essv6831970, essv6753039, essv6735607, essv6761819, essv6936935, essv6665831
SamplesSSM007, SSM057, SSM001, SSM029, SSM021, SSM049, SSM081
Known GenesSTAT3
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2715948
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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