A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421445



Internal ID7905207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:28275278..28282931hg38UCSC Ensembl
Innerchr10:28564207..28571860hg19UCSC Ensembl
Innerchr10:28604213..28611866hg18UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg387654
hg197654
hg187654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5017326, essv5058460, essv5082783, essv5002180, essv5043095, essv5131285, essv5064004, essv5113665, essv5096339, essv5079318, essv5097428, essv5044130, essv5004478
SamplesNA19332, NA19446, NA18489, NA19457, NA19908, NA19437, NA19151, NA18857, NA19094, NA19108, NA19149, NA19109, NA19093
Known GenesMPP7
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)esv2421445
Frequency
Sample Size1184
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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