A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647501



Internal ID7034242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28084608..28088611hg38UCSC Ensembl
Innerchr22:28084617..28088603hg38UCSC Ensembl
Outerchr22:28084600..28088620hg38UCSC Ensembl
chr22:28480596..28484599hg19UCSC Ensembl
Innerchr22:28480605..28484591hg19UCSC Ensembl
Outerchr22:28480588..28484608hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg384004
hg194004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16397303, essv16397298, essv16397307, essv16397309, essv16397301, essv16397310, essv16397299, essv16397306, essv16397305, essv16397296, essv16397308, essv16397302, essv16397300, essv16397297, essv16397304
SamplesHG00737, NA18988, HG01528, HG01069, NA18986, NA20764, HG01699, HG01247, NA20875, NA19834, HG00638, NA12874, HG04014, NA18983, HG00554
Known GenesTTC28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647501
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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