A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1620378



Internal ID12436812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247870642..247870642hg38UCSC Ensembl
chr1:248033944..248033944hg19UCSC Ensembl
chr1:246100567..246100567hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38750
hg19750
hg18750
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4338244
SamplesHuRef
Known GenesTRIM58
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1620378
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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