A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421706



Internal ID8252154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:155093289..155097835hg38UCSC Ensembl
Innerchr7:154884999..154889545hg19UCSC Ensembl
Innerchr7:154515932..154520478hg18UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg384547
hg194547
hg184547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5064013, essv5051509, essv5158460, essv5014615, essv5155322, essv5047157, essv5085583, essv5084076, essv5159218, essv5139073, essv5071173, essv5132998, essv5072039, essv5065436, essv5026445, essv5055283, essv5150855, essv5122473, essv5118664, essv5065468, essv5081903, essv5139897, essv5142949, essv5085440, essv5054556, essv5078984, essv5053833, essv5077607
SamplesNA19394, NA19203, NA18862, NA20292, NA21519, NA19350, NA19377, NA18916, NA19197, NA20291, NA19172, NA19036, NA19189, NA21420, NA20127, NA19403, NA19449, NA19031, NA18930, NA21678, NA18858, NA19147, NA19360, NA19398, NA20128, NA20277, NA19429, NA19346
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
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421706
Frequency
Sample Size1184
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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