A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8925048



Internal ID13768867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:83082042..83082068hg38UCSC Ensembl
Innerchr5:83082045..83082063hg38UCSC Ensembl
Outerchr5:83082021..83082089hg38UCSC Ensembl
chr5:82377861..82377887hg19UCSC Ensembl
Innerchr5:82377864..82377882hg19UCSC Ensembl
Outerchr5:82377840..82377908hg19UCSC Ensembl
chr5:82413617..82413643hg18UCSC Ensembl
Innerchr5:82413638..82413620hg18UCSC Ensembl
Outerchr5:82413596..82413664hg18UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38281
hg19281
hg18281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3429295
Supporting Variants
SamplesNA18564
Known GenesXRCC4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8925048
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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