A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305049



Internal ID15151997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82886409..82886410hg38UCSC Ensembl
Innerchr7:82886367..82886452hg38UCSC Ensembl
Outerchr7:82886366..82886453hg38UCSC Ensembl
chr7:82515725..82515726hg19UCSC Ensembl
Innerchr7:82515683..82515768hg19UCSC Ensembl
Outerchr7:82515682..82515769hg19UCSC Ensembl
chr7:82353661..82353662hg18UCSC Ensembl
Innerchr7:82353704..82353619hg18UCSC Ensembl
Outerchr7:82353618..82353705hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7759702, essv7743440, essv7740837, essv7747519
SamplesNA12414, NA12044, NA12763, NA07000
Known GenesPCLO
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305049
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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