A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421714



Internal ID8252162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23960040..24015250hg38UCSC Ensembl
Innerchr14:24429249..24484459hg19UCSC Ensembl
Innerchr14:23499089..23554299hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3855211
hg1955211
hg1855211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5136736, essv5076768, essv5006278, essv5089106, essv5119361, essv5115625, essv5096669, essv5104302, essv5145550, essv5104023, essv5044343, essv5111060, essv5028534, essv5086010, essv5027339, essv5067999, essv5104486, essv5043147, essv5129928, essv5081188, essv5077241, essv5071586, essv5102101, essv5095791, essv5160344, essv5043953, essv5047392, essv5019349, essv5097191, essv5058338, essv5129539, essv5094542
SamplesNA20853, NA19703, NA21524, NA19393, NA12340, NA20332, NA20771, NA19446, NA18995, NA18558, NA18571, NA19138, NA21529, NA20775, NA21525, NA19128, NA19007, NA10836, NA12718, NA12892, NA19375, NA19308, NA19380, NA19085, NA20333, NA21088, NA18509, NA21486, NA18488, NA19139, NA19046, NA20350
Known GenesDHRS4, DHRS4L1, DHRS4L2
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)esv2421714
Frequency
Sample Size1184
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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