A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2422010

Internal ID7905772
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:965716..970002hg38UCSC Ensembl
Innerchr12:1074882..1079168hg19UCSC Ensembl
Innerchr12:945143..949429hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5130393, essv5088526, essv5105041, essv5041026, essv5011552, essv5133473, essv5094195, essv5106197, essv5032536, essv5157905, essv5026082, essv5050403, essv5125168, essv5004648, essv5106109, essv5120972, essv5154761, essv5005929, essv5107057, essv5127585, essv5124842, essv5100268, essv5063240, essv5074344, essv5138459, essv5046692, essv5124320, essv5031092, essv5036891, essv5108703, essv5072721, essv5024821, essv5019465, essv5114184, essv5027070, essv5140572
SamplesNA21634, NA21520, NA21512, NA21473, NA21580, NA21613, NA21599, NA19310, NA19319, NA18516, NA21435, NA21423, NA21479, NA21425, NA21312, NA21368, NA21314, NA21587, NA21408, NA19098, NA21364, NA21527, NA19332, NA21313, NA21521, NA21360, NA19818, NA21480, NA21405, NA21436, NA21583, NA19179, NA19118, NA19466, NA21526, NA21617
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
Pubmed ID20811451
Accession Number(s)esv2422010
Sample Size1184
Observed Gain0
Observed Loss36
Observed Complex0

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