A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670507



Internal ID14709957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60990658..60991037hg38UCSC Ensembl
Innerchr11:60990821..60990874hg38UCSC Ensembl
Outerchr11:60990495..60991200hg38UCSC Ensembl
chr11:60758130..60758509hg19UCSC Ensembl
Innerchr11:60758293..60758346hg19UCSC Ensembl
Outerchr11:60757967..60758672hg19UCSC Ensembl
chr11:60514706..60515085hg18UCSC Ensembl
Innerchr11:60514869..60514922hg18UCSC Ensembl
Outerchr11:60514543..60515248hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38380
hg19380
hg18380
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365476
Supporting Variants
SamplesNA19239
Known GenesCD6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670507
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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