A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421588



Internal ID7905350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43025275..43033007hg38UCSC Ensembl
Innerchr13:43599411..43607143hg19UCSC Ensembl
Innerchr13:42497411..42505143hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg387733
hg197733
hg187733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5024322, essv5011216, essv5045301, essv5122741, essv5124195, essv5114453, essv5090809, essv5069807, essv5004553, essv5085249, essv5143107, essv5048056, essv5117602, essv5069663, essv5129636, essv5150397, essv5032143, essv5034262, essv5159293, essv5113642, essv5025798, essv5097755, essv5079238, essv5064047, essv5036339, essv5055139, essv5121619, essv5036672, essv5118071, essv5153930, essv5112679, essv5044651, essv5131097, essv5040592, essv5016896, essv5146947, essv5023235, essv5101412, essv5115656, essv5110813, essv5022872, essv5062620, essv5086345, essv5117052, essv5005057, essv5023351, essv5115092, essv5058238, essv5015112, essv5066961, essv5157993, essv5035105, essv5154526, essv5082257, essv5121036, essv5060292, essv5064068, essv5132942, essv5010483, essv5116703, essv5018612, essv5054330, essv5046980, essv5070245, essv5130913, essv5156081, essv5155999, essv5150461, essv5097990, essv5115848, essv5123486, essv5113408, essv5117209, essv5131063, essv5102121, essv5012368, essv5120777, essv5012637, essv5085515, essv5073073, essv5158195, essv5051910, essv5014239, essv5037553, essv5122472, essv5015500, essv5048303, essv5021691, essv5061043, essv5041692, essv5120215, essv5104238, essv5112905, essv5096296, essv5072459, essv5021326, essv5132919, essv5058961, essv5075389
SamplesNA18620, NA18997, NA18143, NA18120, NA18998, NA19055, NA18947, NA19763, NA18561, NA18599, NA17975, NA18603, NA17990, NA19057, NA18959, NA18616, NA18526, NA18633, NA19067, NA18969, NA18967, NA18940, NA18519, NA17980, NA18597, NA19762, NA18595, NA18107, NA19686, NA18619, NA18558, NA19197, NA18582, NA19088, NA17983, NA19782, NA19130, NA19079, NA18949, NA19760, NA19199, NA18970, NA19075, NA18617, NA18966, NA18154, NA18640, NA18973, NA18158, NA18129, NA18605, NA18106, NA18117, NA18109, NA18685, NA19081, NA18976, NA18948, NA18981, NA19208, NA18757, NA18548, NA18566, NA19000, NA18626, NA21339, NA18156, NA18946, NA19059, NA19009, NA18945, NA18974, NA18546, NA19685, NA19308, NA19206, NA18961, NA18952, NA18517, NA18564, NA19773, NA18128, NA18943, NA18594, NA19759, NA19078, NA20348, NA18631, NA18987, NA19080, NA18552, NA19661, NA18670, NA18623, NA19063, NA18147, NA18144, NA18148, NA18622
Known GenesDNAJC15
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)esv2421588
Frequency
Sample Size1184
Observed Gain99
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer