A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3585107



Internal ID6709803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:151280053..151280053hg38UCSC Ensembl
chr4:152201205..152201205hg19UCSC Ensembl
chr4:152420655..152420655hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003225
Supporting Variants
SamplesHuRef
Known GenesPRSS48
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3585107
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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