A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999747



Internal ID6735671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37099469..37099469hg38UCSC Ensembl
chr17:35456404..35456404hg19UCSC Ensembl
chr17:32530517..32530517hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3860
hg1960
hg1860
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576543
SamplesHuRef
Known GenesACACA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999747
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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