A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421733



Internal ID8252181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:142638295..142641812hg38UCSC Ensembl
Innerchr5:142017860..142021377hg19UCSC Ensembl
Innerchr5:141998044..142001561hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383518
hg193518
hg183518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5044593, essv5055187, essv5158151, essv5153476, essv5084772, essv5056797, essv5101623, essv5050999, essv5025234, essv5082423, essv5116075, essv5029643, essv5092106, essv5037086, essv5155573, essv5010563, essv5133010, essv5070109, essv5146771, essv5046224, essv5107812, essv5127586, essv5032489, essv5046903, essv5131967
SamplesNA19028, NA19249, NA18855, NA19190, NA19917, NA21523, NA21400, NA20335, NA19437, NA19403, NA19175, NA18857, NA18858, NA19440, NA19390, NA19834, NA21311, NA21647, NA20341, NA19248, NA20334, NA19468, NA20363, NA19346, NA19431
Known GenesFGF1
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)esv2421733
Frequency
Sample Size1184
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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