A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3327144



Internal ID14827424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14133777..14133802hg38UCSC Ensembl
Innerchr6:14133788..14133791hg38UCSC Ensembl
Outerchr6:14133763..14133816hg38UCSC Ensembl
chr6:14134008..14134033hg19UCSC Ensembl
Innerchr6:14134019..14134022hg19UCSC Ensembl
Outerchr6:14133994..14134047hg19UCSC Ensembl
chr6:14241987..14242012hg18UCSC Ensembl
Innerchr6:14242001..14241998hg18UCSC Ensembl
Outerchr6:14241973..14242026hg18UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8928028, essv8928024, essv8928026, essv8928023, essv8928027
SamplesNA18870, NA18861, NA19093, NA19108, NA19099
Known GenesCD83
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3327144
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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