A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421617



Internal ID1219047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155216160..155236376hg38UCSC Ensembl
Innerchr1:155185951..155206167hg19UCSC Ensembl
Innerchr1:153452575..153472791hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3820217
hg1920217
hg1820217
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5152699, essv5038333, essv5009170, essv5110237, essv5146336, essv5061169, essv5063267, essv5012914, essv5079338, essv5139809, essv5111214, essv5044586, essv5124849, essv5109448, essv5100941, essv5016282, essv5062905, essv5156016, essv5114495, essv5154422, essv5074777, essv5059193, essv5135407, essv5122155, essv5084444, essv5006204, essv5090643, essv5005883, essv5011822, essv5147657, essv5115026, essv5041397, essv5070801, essv5101165, essv5090880, essv5072179, essv5147282, essv5022166, essv5114581, essv5034857, essv5092327, essv5131995, essv5078186, essv5100134, essv5052990, essv5128072, essv5152306
SamplesNA19714, NA19436, NA19031, NA21317, NA21517, NA19173, NA21685, NA19191, NA19317, NA19334, NA19109, NA21479, NA21371, NA19834, NA21295, NA21489, NA19428, NA19917, NA21615, NA19107, NA21513, NA21608, NA19679, NA19190, NA19313, NA19129, NA19172, NA21333, NA19393, NA19103, NA20348, NA19102, NA18510, NA19215, NA19176, NA19332, NA19909, NA21475, NA19318, NA19711, NA19235, NA20756, NA19128, NA18917, NA19130, NA19171, NA21768
Known GenesGBA, GBAP1
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)esv2421617
Frequency
Sample Size1184
Observed Gain47
Observed Loss0
Observed Complex0
Frequencyn/a


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