A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1085289



Internal ID12248413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32814340..32814340hg38UCSC Ensembl
chr22:33210326..33210326hg19UCSC Ensembl
chr22:31540326..31540326hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4008422
SamplesHuRef
Known GenesSYN3, TIMP3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1085289
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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