A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000293



Internal ID7065427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:835690..836089hg38UCSC Ensembl
chr17:738930..739329hg19UCSC Ensembl
chr17:685680..686079hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38400
hg19400
hg18400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3567502
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000293
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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