A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344369



Internal ID15191353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82982552..82982663hg38UCSC Ensembl
Innerchr7:82982557..82982658hg38UCSC Ensembl
Outerchr7:82982446..82982769hg38UCSC Ensembl
chr7:82611868..82611979hg19UCSC Ensembl
Innerchr7:82611873..82611974hg19UCSC Ensembl
Outerchr7:82611762..82612085hg19UCSC Ensembl
chr7:82449804..82449915hg18UCSC Ensembl
Innerchr7:82449910..82449809hg18UCSC Ensembl
Outerchr7:82449698..82450021hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38163
hg19163
hg18163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8936021
SamplesNA19138
Known GenesPCLO
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344369
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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