A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1421971



Internal ID12585093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:841445..841445hg38UCSC Ensembl
chr17:744685..744685hg19UCSC Ensembl
chr17:691435..691435hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38465
hg19465
hg18465
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4287453
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1421971
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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