A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430400



Internal ID15277356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53804995..53806293hg38UCSC Ensembl
Innerchr6:53805293..53805995hg38UCSC Ensembl
Outerchr6:53803995..53807293hg38UCSC Ensembl
chr6:53669793..53671091hg19UCSC Ensembl
Innerchr6:53670091..53670793hg19UCSC Ensembl
Outerchr6:53668793..53672091hg19UCSC Ensembl
chr6:53777752..53779050hg18UCSC Ensembl
Innerchr6:53778752..53778050hg18UCSC Ensembl
Outerchr6:53776752..53780050hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695316
SamplesNA19239
Known GenesLRRC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430400
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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