A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422109



Internal ID8252557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:39101136..39104905hg38UCSC Ensembl
Innerchr6:39068912..39072681hg19UCSC Ensembl
Innerchr6:39176890..39180659hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg383770
hg193770
hg183770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5159999, essv5015405, essv5073638, essv5035819, essv5096065, essv5034685, essv5025955, essv5026646, essv5098054, essv5130697, essv5154749, essv5017722, essv5010589, essv5020188, essv5031125, essv5051385, essv5009523, essv5109238, essv5058447, essv5035388, essv5016311, essv5088793, essv5058410, essv5056112, essv5146789, essv5010697, essv5018432, essv5038894, essv5012448, essv5092066, essv5120367, essv5080684, essv5059079, essv5142861, essv5044276, essv5007773, essv5104921, essv5076867
SamplesNA19028, NA18862, NA18486, NA20294, NA21741, NA19314, NA20359, NA19352, NA21365, NA21525, NA19235, NA19385, NA21478, NA19189, NA18520, NA21523, NA21362, NA21357, NA21634, NA21400, NA21480, NA21313, NA19347, NA18485, NA21308, NA18518, NA21309, NA19206, NA20295, NA19147, NA18863, NA19712, NA19435, NA21368, NA21615, NA18484, NA21379, NA18487
Known GenesSAYSD1
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)esv2422109
Frequency
Sample Size1184
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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