A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1389161



Internal ID12205597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226976160..226976240hg38UCSC Ensembl
chr1:227163861..227163941hg19UCSC Ensembl
chr1:225230484..225230564hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3801001
SamplesHuRef
Known GenesADCK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1389161
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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