A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304219



Internal ID14804481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:36188759..36188760hg38UCSC Ensembl
Innerchr18:36188742..36188777hg38UCSC Ensembl
Outerchr18:36188741..36188778hg38UCSC Ensembl
chr18:33768722..33768723hg19UCSC Ensembl
Innerchr18:33768705..33768740hg19UCSC Ensembl
Outerchr18:33768704..33768741hg19UCSC Ensembl
chr18:32022720..32022721hg18UCSC Ensembl
Innerchr18:32022738..32022703hg18UCSC Ensembl
Outerchr18:32022702..32022739hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38242
hg19242
hg18242
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7778290, essv7785190, essv7802333, essv7821139, essv7822350, essv7798176, essv7830041, essv7771210, essv7810579, essv7784696, essv7782980, essv7796252, essv7790916
SamplesNA18526, NA18550, NA18573, NA07051, NA18576, NA12716, NA18572, NA19005, NA18558, NA18942, NA18945, NA12045, NA07000
Known GenesMOCOS
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304219
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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