A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672387



Internal ID9591806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18570336..18572160hg38UCSC Ensembl
chr12:18723270..18725094hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381825
hg191825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5532704, essv5763309, essv6223496, essv5476417, essv6113238, essv5437139, essv6453985, essv6128164, essv6313241, essv6236156, essv6143050, essv5597218, essv5478750, essv5679774, essv5969679, essv6323888, essv5962956, essv6459754, essv6241697, essv6568661, essv5607864, essv5611458, essv6518761, essv6119069, essv6329375, essv6028532, essv5875641, essv5494773, essv6387118, essv5574172, essv6298649, essv5685114, essv5602360, essv5544786
SamplesHG00182, NA18523, NA07056, NA18874, NA19435, NA19338, HG01551, NA19428, NA19383, HG00346, HG00180, NA20530, NA19397, HG00315, NA20336, NA19457, NA19360, NA19377, HG00325, NA18498, NA20334, NA18502, HG00232, NA18487, NA19332, NA20815, NA19382, NA20287, HG00311, NA19649, NA19130, NA18853, HG01102, NA19385
Known GenesPIK3C2G
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672387
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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