A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3356372



Internal ID14856635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149835426..149835426hg38UCSC Ensembl
Innerchr6:149835425..149835427hg38UCSC Ensembl
Outerchr6:149835376..149835476hg38UCSC Ensembl
chr6:150156562..150156562hg19UCSC Ensembl
Innerchr6:150156561..150156563hg19UCSC Ensembl
Outerchr6:150156512..150156612hg19UCSC Ensembl
chr6:150198255..150198255hg18UCSC Ensembl
Innerchr6:150198256..150198254hg18UCSC Ensembl
Outerchr6:150198205..150198305hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg381552
hg191552
hg181552
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741227
SamplesNA19240
Known GenesLRP11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3356372
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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