A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665414



Internal ID4709748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133247774..133248180hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6536412, essv6339896, essv6571157, essv5778276, essv5560999, essv5531557, essv6520352, essv6188417, essv5927565, essv5992016, essv6529363, essv6165676, essv5455399, essv6370713, essv5918910, essv5640138, essv5428085, essv5594701, essv5976340, essv6497957, essv5661301
SamplesNA19436, NA18871, NA19319, NA18516, NA19379, NA18856, NA19835, NA19700, NA19316, NA20341, NA20291, NA19373, NA18504, NA19394, NA20287, NA20317, NA19371, NA19350, NA18908, NA19448, NA19439
Known GenesPOLE
Method
Analysis
Platform
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665414
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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