A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421702



Internal ID7905464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47151467..47160290hg38UCSC Ensembl
Innerchr20:45780106..45788929hg19UCSC Ensembl
Innerchr20:45213513..45222336hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg388824
hg198824
hg188824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5030317, essv5159333, essv5078585, essv5085836, essv5040687, essv5050000, essv5031999, essv5046517, essv5006998, essv5052326, essv5055246, essv5093168, essv5077976, essv5076109, essv5129378, essv5035079, essv5110332, essv5130650, essv5025624, essv5020689, essv5059408, essv5011619, essv5102221, essv5052099, essv5007444, essv5016806, essv5051913, essv5093577, essv5147683, essv5135366, essv5137005, essv5056489
SamplesNA18158, NA17990, NA18993, NA18128, NA17981, NA20909, NA18542, NA17962, NA18628, NA18670, NA17986, NA20856, NA21111, NA18536, NA18576, NA18622, NA18990, NA18143, NA18636, NA19066, NA17977, NA18637, NA18643, NA19000, NA18694, NA17987, NA18945, NA18619, NA18987, NA18740, NA18141, NA18112
Known GenesEYA2
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)esv2421702
Frequency
Sample Size1184
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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