A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7731395



Internal ID13277008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114133610..114133670hg38UCSC Ensembl
Innerchr3:114133639..114133640hg38UCSC Ensembl
Outerchr3:114133510..114133770hg38UCSC Ensembl
chr3:113852457..113852517hg19UCSC Ensembl
Innerchr3:113852486..113852487hg19UCSC Ensembl
Outerchr3:113852357..113852617hg19UCSC Ensembl
chr3:115335147..115335207hg18UCSC Ensembl
Innerchr3:115335177..115335176hg18UCSC Ensembl
Outerchr3:115335047..115335307hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302515
Supporting Variants
SamplesNA12878
Known GenesDRD3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7731395
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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