A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356911



Internal ID14857174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204269330..204269344hg38UCSC Ensembl
Innerchr1:204269321..204269351hg38UCSC Ensembl
Outerchr1:204269309..204269365hg38UCSC Ensembl
chr1:204238458..204238472hg19UCSC Ensembl
Innerchr1:204238449..204238479hg19UCSC Ensembl
Outerchr1:204238437..204238493hg19UCSC Ensembl
chr1:202505081..202505095hg18UCSC Ensembl
Innerchr1:202505102..202505072hg18UCSC Ensembl
Outerchr1:202505060..202505116hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38238
hg19238
hg18238
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673883, essv8673882, essv8673884
SamplesNA12892, NA12891, NA12878
Known GenesPLEKHA6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356911
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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