A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421335



Internal ID7905097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38728724..38745139hg38UCSC Ensembl
Innerchr2:38955866..38972281hg19UCSC Ensembl
Innerchr2:38809370..38825785hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3816416
hg1916416
hg1816416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5156727, essv5053571, essv5093095, essv5050770, essv5125624, essv5021313, essv5144588, essv5154709, essv5133550, essv5135522, essv5085628, essv5005580, essv5002231, essv5039692, essv5117157, essv5022409, essv5059785, essv5102850, essv5064699, essv5064179, essv5034683, essv5067642, essv5153279, essv5049244, essv5121969, essv5142287, essv5079788, essv5136513, essv5031818, essv5068084, essv5053371
SamplesNA19794, NA10845, NA12767, NA11931, NA07029, NA21301, NA12812, NA12348, NA07347, NA12283, NA20288, NA20287, NA12005, NA10839, NA21344, NA07022, NA12343, NA20521, NA20126, NA12249, NA12056, NA12817, NA12778, NA21647, NA12763, NA06994, NA21418, NA20128, NA11892, NA07000, NA19046
Known GenesGALM, SRSF7
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)esv2421335
Frequency
Sample Size1184
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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