A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1389294



Internal ID12205730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22803646..22803696hg38UCSC Ensembl
chr1:23130139..23130189hg19UCSC Ensembl
chr1:23002726..23002776hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3987352
SamplesHuRef
Known GenesEPHB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1389294
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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