A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8700036



Internal ID13284191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53235301..53236439hg38UCSC Ensembl
Innerchr3:53235361..53236370hg38UCSC Ensembl
Outerchr3:53235211..53236480hg38UCSC Ensembl
chr3:53269317..53270455hg19UCSC Ensembl
Innerchr3:53269377..53270386hg19UCSC Ensembl
Outerchr3:53269227..53270496hg19UCSC Ensembl
chr3:53244357..53245495hg18UCSC Ensembl
Innerchr3:53244417..53245426hg18UCSC Ensembl
Outerchr3:53244267..53245536hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381139
hg191139
hg181139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3328474
Supporting Variants
SamplesNA12878
Known GenesTKT
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8700036
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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