A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4290424



Internal ID11572962
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1386806
Supporting Variants
SamplesHuRef
Known GenesBAIAP2L2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4290424
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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