A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9611302



Internal ID13605350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114786629..114786648hg38UCSC Ensembl
Innerchr3:114786625..114786652hg38UCSC Ensembl
Outerchr3:114786606..114786671hg38UCSC Ensembl
chr3:114505476..114505495hg19UCSC Ensembl
Innerchr3:114505472..114505499hg19UCSC Ensembl
Outerchr3:114505453..114505518hg19UCSC Ensembl
chr3:115988166..115988185hg18UCSC Ensembl
Innerchr3:115988189..115988162hg18UCSC Ensembl
Outerchr3:115988143..115988208hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3433190
Supporting Variants
SamplesNA12814
Known GenesZBTB20
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9611302
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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