A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3582250



Internal ID6706946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19959799..19959865hg38UCSC Ensembl
chr22:19947322..19947388hg19UCSC Ensembl
chr22:18327322..18327388hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009031
Supporting Variants
SamplesHuRef
Known GenesCOMT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3582250
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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