A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1228868



Internal ID12391991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:941332..941446hg38UCSC Ensembl
chr17:844572..844686hg19UCSC Ensembl
chr17:791322..791436hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38115
hg19115
hg18115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3986904
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1228868
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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