A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1388923



Internal ID12552045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223636416..223636780hg38UCSC Ensembl
chr1:223824118..223824482hg19UCSC Ensembl
chr1:221890741..221891105hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38365
hg19365
hg18365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4178746
SamplesHuRef
Known GenesCAPN8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1388923
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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