A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695036



Internal ID15050261
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 StatusS
Merged Variantsesv3377992
Supporting Variants
SamplesNA19239
Known GenesENPP3, OR2A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695036
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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