A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382388



Internal ID14882663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167337474..167338672hg38UCSC Ensembl
Innerchr6:167337672..167338474hg38UCSC Ensembl
Outerchr6:167336474..167339672hg38UCSC Ensembl
chr6:167750962..167752160hg19UCSC Ensembl
Innerchr6:167751160..167751962hg19UCSC Ensembl
Outerchr6:167749962..167753160hg19UCSC Ensembl
chr6:167670952..167672150hg18UCSC Ensembl
Innerchr6:167671952..167671150hg18UCSC Ensembl
Outerchr6:167669952..167673150hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3714e59
Supporting Variantsessv8695105
SamplesNA19239
Known GenesTTLL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382388
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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