A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4344036



Internal ID11279888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19959817..19959884hg38UCSC Ensembl
chr22:19947340..19947407hg19UCSC Ensembl
chr22:18327340..18327407hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1291604
Supporting Variants
SamplesHuRef
Known GenesCOMT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4344036
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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