A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305139



Internal ID15152087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82982508..82982509hg38UCSC Ensembl
Innerchr7:82982340..82982677hg38UCSC Ensembl
Outerchr7:82982339..82982678hg38UCSC Ensembl
chr7:82611824..82611825hg19UCSC Ensembl
Innerchr7:82611656..82611993hg19UCSC Ensembl
Outerchr7:82611655..82611994hg19UCSC Ensembl
chr7:82449760..82449761hg18UCSC Ensembl
Innerchr7:82449929..82449592hg18UCSC Ensembl
Outerchr7:82449591..82449930hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38163
hg19163
hg18163
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746887
SamplesNA19138
Known GenesPCLO
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305139
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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