A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1704509



Internal ID12520941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42769498..42769498hg38UCSC Ensembl
chr21:44189608..44189608hg19UCSC Ensembl
chr21:43062677..43062677hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4343531
SamplesHuRef
Known GenesPDE9A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1704509
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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