A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695037



Internal ID13643122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131699619..131706717hg38UCSC Ensembl
Innerchr6:131700619..131705717hg38UCSC Ensembl
Outerchr6:131698619..131707717hg38UCSC Ensembl
chr6:132020759..132027857hg19UCSC Ensembl
Innerchr6:132021759..132026857hg19UCSC Ensembl
Outerchr6:132019759..132028857hg19UCSC Ensembl
chr6:132062452..132069550hg18UCSC Ensembl
Innerchr6:132063452..132068550hg18UCSC Ensembl
Outerchr6:132061452..132070550hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg387099
hg197099
hg187099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3384854
Supporting Variants
SamplesNA12878
Known GenesENPP3, OR2A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695037
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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