A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647506



Internal ID7034247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28196574..28214564hg38UCSC Ensembl
Innerchr22:28197074..28214064hg38UCSC Ensembl
Outerchr22:28195574..28215564hg38UCSC Ensembl
chr22:28592562..28610552hg19UCSC Ensembl
Innerchr22:28593062..28610052hg19UCSC Ensembl
Outerchr22:28591562..28611552hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3817991
hg1917991
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16397324, essv16397319, essv16397315, essv16397326, essv16397317, essv16397320, essv16397321, essv16397318, essv16397322, essv16397325, essv16397316, essv16397323
SamplesHG01918, NA20517, HG00717, HG01046, HG01871, NA18939, HG01598, HG02179, HG01798, HG03557, HG03097, HG02116
Known GenesTTC28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647506
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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