A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1336011



Internal ID12152447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1653100..1653100hg38UCSC Ensembl
chr1:1584546..1584546hg19UCSC Ensembl
chr1:1574409..1574409hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383920
hg193920
hg183920
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4160103
SamplesHuRef
Known GenesCDK11B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1336011
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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