A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421381



Internal ID8251829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:91440621..91443389hg38UCSC Ensembl
Innerchr10:93200378..93203146hg19UCSC Ensembl
Innerchr10:93190358..93193126hg18UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg382769
hg192769
hg182769
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5052708, essv5135767, essv5150368, essv5119628, essv5151605, essv5080797, essv5121685, essv5066562, essv5068466, essv5046620, essv5027880, essv5140963, essv5002604, essv5049836, essv5137124, essv5109101, essv5053650, essv5041487, essv5110729, essv5108168, essv5059865, essv5109532, essv5075133, essv5015081, essv5037948, essv5009328, essv5037788, essv5110182, essv5107190, essv5044444, essv5086631, essv5044317, essv5099710, essv5064944, essv5012497, essv5041715, essv5042378, essv5026903, essv5145837, essv5155768, essv5068063, essv5088211, essv5132630, essv5077424, essv5038263, essv5085059, essv5006300, essv5126177, essv5142122, essv5104612, essv5077631, essv5059378, essv5092531, essv5004892, essv5011170, essv5158390, essv5053646, essv5027967, essv5100610, essv5121030, essv5120030, essv5039149, essv5036987, essv5082345, essv5073014, essv5065919, essv5058828, essv5129822
SamplesNA21683, NA21577, NA21620, NA21519, NA21436, NA21597, NA21352, NA21457, NA21367, NA21723, NA21741, NA21408, NA21693, NA21738, NA21776, NA21739, NA21434, NA19107, NA21371, NA21378, NA21520, NA21473, NA21613, NA21510, NA20759, NA21574, NA21650, NA21529, NA21611, NA21632, NA21825, NA21689, NA21420, NA21417, NA21105, NA21587, NA21575, NA21448, NA21682, NA21596, NA21617, NA19776, NA20876, NA21339, NA21826, NA21295, NA19113, NA07345, NA21356, NA21521, NA21314, NA21719, NA21576, NA21336, NA21768, NA21616, NA21368, NA21733, NA21740, NA21517, NA21582, NA21619, NA21364, NA21418, NA21722, NA21509, NA21421, NA21333
Known GenesHECTD2, LOC100188947
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)esv2421381
Frequency
Sample Size1184
Observed Gain68
Observed Loss0
Observed Complex0
Frequencyn/a


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