A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4320021



Internal ID11255873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18597110..18598443hg38UCSC Ensembl
chr8:18454620..18455953hg19UCSC Ensembl
chr8:18498900..18500233hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381334
hg191334
hg181334
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1660982
Supporting Variants
SamplesHuRef
Known GenesPSD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4320021
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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