A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9619226



Internal ID13246091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168867970..168867989hg38UCSC Ensembl
Innerchr4:168867966..168867993hg38UCSC Ensembl
Outerchr4:168867947..168868012hg38UCSC Ensembl
chr4:169789121..169789140hg19UCSC Ensembl
Innerchr4:169789117..169789144hg19UCSC Ensembl
Outerchr4:169789098..169789163hg19UCSC Ensembl
chr4:170025696..170025715hg18UCSC Ensembl
Innerchr4:170025719..170025692hg18UCSC Ensembl
Outerchr4:170025673..170025738hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3394739
Supporting Variants
SamplesNA12812
Known GenesPALLD
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9619226
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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