A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3355073



Internal ID15202054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52291710..52291726hg38UCSC Ensembl
Innerchr12:52291701..52291733hg38UCSC Ensembl
Outerchr12:52291685..52291751hg38UCSC Ensembl
chr12:52685494..52685510hg19UCSC Ensembl
Innerchr12:52685485..52685517hg19UCSC Ensembl
Outerchr12:52685469..52685535hg19UCSC Ensembl
chr12:50971761..50971777hg18UCSC Ensembl
Innerchr12:50971784..50971752hg18UCSC Ensembl
Outerchr12:50971736..50971802hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38282
hg19282
hg18282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8957275, essv8957266, essv8957271, essv8957263, essv8957273, essv8957258, essv8957260, essv8957265, essv8957268, essv8957264, essv8957276, essv8957262, essv8957272, essv8957261, essv8957274, essv8957267, essv8957269
SamplesNA18502, NA18592, NA18603, NA18545, NA18526, NA18563, NA18547, NA18964, NA18572, NA18573, NA19257, NA18555, NA18570, NA18576, NA18608, NA18542, NA18564
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3355073
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer