A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1090769



Internal ID11907207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226956025..226957059hg38UCSC Ensembl
chr1:227143726..227144760hg19UCSC Ensembl
chr1:225210349..225211383hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381035
hg191035
hg181035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3616391
SamplesHuRef
Known GenesADCK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1090769
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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