A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1240378



Internal ID12403501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99589044..99589044hg38UCSC Ensembl
chr4:100510201..100510201hg19UCSC Ensembl
chr4:100729224..100729224hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3998293
SamplesHuRef
Known GenesMTTP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1240378
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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