A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421962



Internal ID8252411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:42351574..42357824hg38UCSC Ensembl
Innerchr18:39931539..39937789hg19UCSC Ensembl
Innerchr18:38185537..38191787hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg386251
hg196251
hg186251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5053296, essv5131200, essv5086707, essv5124037, essv5051861, essv5145552, essv5049603, essv5037940, essv5071502, essv5046115, essv5158028, essv5036079, essv5158520, essv5123578, essv5129391, essv5134428, essv5102942, essv5032128, essv5114140, essv5141713, essv5011345, essv5077447, essv5159923, essv5093282, essv5037415, essv5037372, essv5015916, essv5140814, essv5018470, essv5096853, essv5026174, essv5032744, essv5071232, essv5147349, essv5129129, essv5027851, essv5049552, essv5127347, essv5068262
SamplesNA21636, NA18861, NA18486, NA21489, NA21723, NA19373, NA21365, NA19651, NA18868, NA19226, NA21634, NA21451, NA19210, NA21575, NA19176, NA19982, NA18910, NA18871, NA19103, NA21617, NA19097, NA21366, NA19118, NA21339, NA11894, NA19440, NA18863, NA19174, NA21685, NA19679, NA18869, NA18911, NA18484, NA20348, NA19248, NA19102, NA21418, NA19096, NA20277
Known GenesLINC00907
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)esv2421962
Frequency
Sample Size1184
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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