A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3377992



Internal ID15224965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131699119..131700617hg38UCSC Ensembl
Innerchr6:131699617..131700119hg38UCSC Ensembl
Outerchr6:131698119..131701617hg38UCSC Ensembl
chr6:132020259..132021757hg19UCSC Ensembl
Innerchr6:132020757..132021259hg19UCSC Ensembl
Outerchr6:132019259..132022757hg19UCSC Ensembl
chr6:132061952..132063450hg18UCSC Ensembl
Innerchr6:132062952..132062450hg18UCSC Ensembl
Outerchr6:132060952..132064450hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695036
SamplesNA19239
Known GenesENPP3, OR2A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3377992
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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