A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1380112



Internal ID12196548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:151280112..151280112hg38UCSC Ensembl
chr4:152201264..152201264hg19UCSC Ensembl
chr4:152420714..152420714hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4196163
SamplesHuRef
Known GenesPRSS48
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1380112
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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