A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647225



Internal ID6687280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17583610..17586518hg38UCSC Ensembl
Innerchr22:17583610..17586518hg38UCSC Ensembl
Outerchr22:17583378..17586881hg38UCSC Ensembl
chr22:18066376..18069284hg19UCSC Ensembl
Innerchr22:18066376..18069284hg19UCSC Ensembl
Outerchr22:18066144..18069647hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382909
hg192909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16360538, essv16360539, essv16360537, essv16360540
SamplesNA18561, NA19055, HG00590, HG00598
Known GenesSLC25A18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647225
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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