A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4209940



Internal ID11145792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77395405..77395405hg38UCSC Ensembl
chr5:76691230..76691230hg19UCSC Ensembl
chr5:76726986..76726986hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38314
hg19314
hg18314
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1478247
Supporting Variants
SamplesHuRef
Known GenesPDE8B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4209940
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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