A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3421950



Internal ID14922222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25379996..25380010hg38UCSC Ensembl
Innerchr6:25379992..25380012hg38UCSC Ensembl
Outerchr6:25379978..25380028hg38UCSC Ensembl
chr6:25380224..25380238hg19UCSC Ensembl
Innerchr6:25380220..25380240hg19UCSC Ensembl
Outerchr6:25380206..25380256hg19UCSC Ensembl
chr6:25488203..25488217hg18UCSC Ensembl
Innerchr6:25488219..25488199hg18UCSC Ensembl
Outerchr6:25488185..25488235hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8928397, essv8928400, essv8928398, essv8928396, essv8928393, essv8928399, essv8928403, essv8928401, essv8928394, essv8928395
SamplesNA11918, NA18550, NA18570, NA18545, NA18573, NA18566, NA18638, NA18571, NA18532, NA18853
Known GenesLRRC16A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3421950
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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