A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3355356



Internal ID14855620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2801657..2801687hg38UCSC Ensembl
Innerchr3:2801664..2801678hg38UCSC Ensembl
Outerchr3:2801634..2801708hg38UCSC Ensembl
chr3:2843341..2843371hg19UCSC Ensembl
Innerchr3:2843348..2843362hg19UCSC Ensembl
Outerchr3:2843318..2843392hg19UCSC Ensembl
chr3:2818341..2818371hg18UCSC Ensembl
Innerchr3:2818362..2818348hg18UCSC Ensembl
Outerchr3:2818318..2818392hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8911529, essv8911530, essv8911531, essv8911528
SamplesNA18504, NA18499, NA19147, NA18517
Known GenesCNTN4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3355356
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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