A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4356688



Internal ID11639226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146990063..146990063hg38UCSC Ensembl
chr5:146369626..146369626hg19UCSC Ensembl
chr5:146349819..146349819hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38318
hg19318
hg18318
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1159529
Supporting Variants
SamplesHuRef
Known GenesPPP2R2B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4356688
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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