A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4162381



Internal ID11444919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133375301..133375301hg38UCSC Ensembl
chr5:132710993..132710993hg19UCSC Ensembl
chr5:132738892..132738892hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1621824
Supporting Variants
SamplesHuRef
Known GenesFSTL4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4162381
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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