A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665408



Internal ID9931513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50397644..50397898hg38UCSC Ensembl
Outerchr22:50397607..50397948hg38UCSC Ensembl
Innerchr22:50836073..50836327hg19UCSC Ensembl
Outerchr22:50836036..50836377hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6424657, essv5629661, essv5693585, essv5853426, essv5480418, essv5562830, essv5559428, essv6074679, essv6483942, essv6446129, essv6262821, essv6163796, essv6559803, essv6260514, essv5713392, essv6009014, essv6170540, essv5935292, essv6393018, essv5726898, essv6483959, essv5807287, essv5653373, essv5844110, essv5484022, essv5708359, essv6461001, essv6159509, essv5621358, essv6044745, essv5859654, essv6480898, essv5904286, essv6583009, essv6084230, essv6594114, essv5722560, essv5840975, essv6011727, essv5651892, essv5962949, essv5996412, essv5625078, essv5781353, essv6326034, essv6112828, essv6128006, essv5724754, essv6090344, essv6570839, essv6419773, essv5822484, essv5546934, essv6105487, essv5585751, essv5755459, essv6419932, essv5979746, essv5973422, essv6555658, essv6491061, essv6282233, essv6434780, essv6239228, essv6204704, essv5964100, essv6106295, essv5632896
SamplesHG01060, HG01441, NA19703, HG01462, HG00249, HG00524, NA11933, HG01389, NA18999, NA18596, HG00654, HG00693, HG00271, NA19396, HG01350, NA19315, HG01351, HG01488, HG01492, HG01083, HG00277, HG01069, NA19383, HG00335, HG01170, NA19372, NA19385, HG00309, HG01048, HG00326, NA11831, NA19657, HG00268, HG01171, HG00282, HG00328, NA19663, HG00275, HG00239, HG01073, HG00250, HG00531, NA12829, NA18499, HG00613, HG01334, NA19452, HG00463, HG01107, NA18543, NA19712, HG00580, HG00375, HG00136, HG00237, NA19311, HG00662, NA12347, HG00111, HG00259, HG00421, HG00329, NA19093, NA19116, HG00274, HG00252, NA07000, HG01061
Known GenesPPP6R2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665408
Frequency
Sample Size1151
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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