A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421329



Internal ID8251777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:74548524..74559068hg38UCSC Ensembl
Innerchr17:72544663..72555207hg19UCSC Ensembl
Innerchr17:70056258..70066802hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3810545
hg1910545
hg1810545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5060611, essv5135417, essv5158399, essv5048704, essv5056148, essv5142510, essv5125459, essv5146795, essv5122833, essv5002115, essv5073466, essv5156047, essv5110756, essv5037957, essv5011052, essv5060388, essv5106988, essv5106647, essv5087669, essv5108496, essv5097892, essv5106016, essv5147327
SamplesNA21636, NA21423, NA21597, NA21741, NA21635, NA21405, NA19315, NA19307, NA21613, NA21447, NA21716, NA21313, NA21575, NA21300, NA21439, NA21617, NA21678, NA21336, NA21425, NA21718, NA21647, NA21517, NA21312
Known Genes
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)esv2421329
Frequency
Sample Size1184
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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