A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009031



Internal ID6721135
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3582250
SamplesHuRef
Known GenesCOMT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009031
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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