A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422080



Internal ID7905842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69414684..69434112hg38UCSC Ensembl
Innerchr9:72029600..72049028hg19UCSC Ensembl
Innerchr9:71219420..71238848hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3819429
hg1919429
hg1819429
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5149405, essv5141063, essv5115738, essv5065690, essv5039858, essv5137053, essv5123100, essv5068680, essv5124677, essv5024839, essv5144183, essv5041025, essv5124067, essv5056222, essv5071358, essv5144125, essv5105166, essv5149151, essv5155946, essv5058543, essv5069766, essv5041869, essv5084299, essv5137091, essv5009385, essv5086838, essv5117536, essv5139202, essv5124919, essv5122159, essv5078778, essv5067587, essv5154848, essv5137995, essv5067473, essv5098853, essv5038826, essv5115914, essv5011004, essv5081028, essv5061494, essv5057350, essv5002519, essv5051075, essv5016621, essv5132594, essv5139901, essv5036376, essv5052250, essv5089186, essv5024156, essv5015107, essv5073923, essv5140536, essv5023729, essv5008336, essv5116881, essv5086082, essv5049869, essv5094901, essv5081049, essv5132538
SamplesNA21741, NA18509, NA19321, NA20349, NA21631, NA21517, NA21478, NA20346, NA18511, NA19319, NA21385, NA19983, NA18109, NA17979, NA18506, NA21528, NA20340, NA19463, NA19982, NA18508, NA21716, NA18930, NA21596, NA18956, NA19908, NA21352, NA19181, NA19679, NA21144, NA19918, NA19919, NA19213, NA19247, NA19380, NA20348, NA18510, NA19139, NA20350, NA21303, NA21619, NA20347, NA21364, NA21527, NA20797, NA19141, NA19138, NA21682, NA19201, NA17975, NA19116, NA19225, NA19327, NA18917, NA21414, NA21583, NA18499, NA19371, NA19916, NA19346, NA19249, NA21302, NA19456
Known GenesAPBA1
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2422080
Frequency
Sample Size1184
Observed Gain62
Observed Loss0
Observed Complex0
Frequencyn/a


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