A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1624307



Internal ID12440743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165690069..165690069hg38UCSC Ensembl
chr1:165659306..165659306hg19UCSC Ensembl
chr1:163925930..163925930hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4029930
SamplesHuRef
Known GenesALDH9A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1624307
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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