A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1193917



Internal ID12357040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38946748..38946748hg38UCSC Ensembl
chr17:37103001..37103001hg19UCSC Ensembl
chr17:34356527..34356527hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4020527
SamplesHuRef
Known GenesFBXO47
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1193917
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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