A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652220



Internal ID15102396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:108328771..108328845hg38UCSC Ensembl
Innerchr3:108328771..108328845hg38UCSC Ensembl
Outerchr3:108327754..108330306hg38UCSC Ensembl
chr3:108047618..108047692hg19UCSC Ensembl
Innerchr3:108047618..108047692hg19UCSC Ensembl
Outerchr3:108046601..108049153hg19UCSC Ensembl
chr3:109530308..109530382hg18UCSC Ensembl
Innerchr3:109530308..109530382hg18UCSC Ensembl
Outerchr3:109529291..109531843hg18UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3328600
Supporting Variants
SamplesNA19240
Known GenesHHLA2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652220
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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