A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687966



Internal ID13370233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133535158..133541756hg38UCSC Ensembl
Innerchr10:133536158..133540756hg38UCSC Ensembl
Outerchr10:133534158..133542756hg38UCSC Ensembl
chr10:135348662..135355260hg19UCSC Ensembl
Innerchr10:135349662..135354260hg19UCSC Ensembl
Outerchr10:135347662..135356260hg19UCSC Ensembl
chr10:135198652..135205250hg18UCSC Ensembl
Innerchr10:135199652..135204250hg18UCSC Ensembl
Outerchr10:135197652..135206250hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg386599
hg196599
hg186599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3415226
Supporting Variants
SamplesNA12892
Known GenesCYP2E1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687966
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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