A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3699322



Internal ID12062548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111359244..111359566hg38UCSC Ensembl
chr5:110694942..110695264hg19UCSC Ensembl
chr5:110722841..110723163hg18UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38323
hg19323
hg18323
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1341497
Supporting Variants
SamplesHuRef
Known GenesCAMK4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3699322
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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