A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675305



Internal ID9594724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:27790628..27804034hg38UCSC Ensembl
Outerchr22:27790257..27804404hg38UCSC Ensembl
Innerchr22:28186616..28200022hg19UCSC Ensembl
Outerchr22:28186245..28200392hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3814148
hg1914148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5820621, essv5589292, essv5728199, essv6418589, essv6521657, essv6147428, essv5912440, essv6535781, essv5711173, essv5977062, essv5889913, essv5502049, essv5702328, essv6310801, essv6298517, essv5498084, essv6341082, essv6394742, essv5468824, essv5690983, essv5883379
SamplesNA19350, NA19443, NA19446, NA19448, NA19471, NA19462, NA19347, NA19338, NA19469, NA19436, NA19440, NA19435, NA19311, NA19438, NA19472, NA19474, NA19430, NA19463, NA19429, NA19346, NA19431
Known GenesMN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675305
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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