A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893452



Internal ID18837586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23969285..24001082hg38UCSC Ensembl
Innerchr22:24311474..24346385hg19UCSC Ensembl
Outerchr22:24289365..24368161hg19UCSC Ensembl
Innerchr22:22641474..22676385hg18UCSC Ensembl
Outerchr22:22619365..22698161hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3831798
hg1978797
hg1878797
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25798774, essv25782562, essv25789896, essv25787154, essv25779159, essv25786287, essv25799239, essv25783450, essv25799936
Samples
Known GenesDDT, DDTL, GSTT2, GSTT2B, GSTTP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893452
Frequency
Sample Size3017
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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