A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303014



Internal ID14803276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49898243..49898356hg38UCSC Ensembl
Innerchr12:49898299..49898299hg38UCSC Ensembl
Outerchr12:49898143..49898456hg38UCSC Ensembl
chr12:50292026..50292139hg19UCSC Ensembl
Innerchr12:50292082..50292082hg19UCSC Ensembl
Outerchr12:50291926..50292239hg19UCSC Ensembl
chr12:48578293..48578406hg18UCSC Ensembl
Innerchr12:48578349..48578349hg18UCSC Ensembl
Outerchr12:48578193..48578506hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38114
hg19114
hg18114
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7735244, essv7739056, essv7737406, essv7735383, essv7734880, essv7735126, essv7732320, essv7734120, essv7732726, essv7735135, essv7732539, essv7732885, essv7735545, essv7735941, essv7735463, essv7739124, essv7738982, essv7733024, essv7736082, essv7732082, essv7733947, essv7736666, essv7731786, essv7732012, essv7738117, essv7736710, essv7731716
SamplesNA18502, NA18947, NA11995, NA18861, NA18507, NA18870, NA07357, NA18547, NA18916, NA18582, NA19138, NA18949, NA12044, NA18520, NA11993, NA18956, NA18948, NA19099, NA19257, NA19225, NA18858, NA19108, NA18943, NA18501, NA19093, NA18505, NA18511
Known GenesFAIM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303014
Frequency
Sample Size185
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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