A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337538



Internal ID14837808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131481783..131481807hg38UCSC Ensembl
Innerchr11:131481745..131481845hg38UCSC Ensembl
Outerchr11:131481721..131481869hg38UCSC Ensembl
chr11:131351677..131351701hg19UCSC Ensembl
Innerchr11:131351639..131351739hg19UCSC Ensembl
Outerchr11:131351615..131351763hg19UCSC Ensembl
chr11:130856887..130856911hg18UCSC Ensembl
Innerchr11:130856949..130856849hg18UCSC Ensembl
Outerchr11:130856825..130856973hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865541
SamplesNA12005
Known GenesNTM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337538
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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