A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8936018



Internal ID13349463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82886399..82886435hg38UCSC Ensembl
Innerchr7:82886407..82886424hg38UCSC Ensembl
Outerchr7:82886371..82886460hg38UCSC Ensembl
chr7:82515715..82515751hg19UCSC Ensembl
Innerchr7:82515723..82515740hg19UCSC Ensembl
Outerchr7:82515687..82515776hg19UCSC Ensembl
chr7:82353651..82353687hg18UCSC Ensembl
Innerchr7:82353676..82353659hg18UCSC Ensembl
Outerchr7:82353623..82353712hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3411020
Supporting Variants
SamplesNA12044
Known GenesPCLO
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8936018
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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