A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1386806



Internal ID12549928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38110054..38110054hg38UCSC Ensembl
chr22:38506061..38506061hg19UCSC Ensembl
chr22:36836007..36836007hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381658
hg191658
hg181658
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4290424
SamplesHuRef
Known GenesBAIAP2L2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1386806
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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