A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1299744



Internal ID12116180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63354270..63354270hg38UCSC Ensembl
chr20:61985622..61985622hg19UCSC Ensembl
chr20:61456066..61456066hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38224
hg19224
hg18224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4213416
SamplesHuRef
Known GenesCHRNA4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1299744
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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