A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1567874



Internal ID12384311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203500074..203500074hg38UCSC Ensembl
chr1:203469202..203469202hg19UCSC Ensembl
chr1:201735825..201735825hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38341
hg19341
hg18341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3718505
SamplesHuRef
Known GenesOPTC
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1567874
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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