A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672926



Internal ID9592345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:68034914..68035746hg38UCSC Ensembl
Outerchr11:68034757..68035899hg38UCSC Ensembl
Innerchr11:67802381..67803213hg19UCSC Ensembl
Outerchr11:67802224..67803366hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg381143
hg191143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6517108, essv5803650, essv6170235
SamplesHG00560, HG00436, HG00580
Known GenesNDUFS8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672926
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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