A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1753121



Internal ID12916239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:510277..510277hg38UCSC Ensembl
chr17:413517..413517hg19UCSC Ensembl
chr17:360267..360267hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3899
hg1999
hg1899
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3638046
SamplesHuRef
Known GenesVPS53
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1753121
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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