A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675104



Internal ID9941209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:46948543..46949117hg38UCSC Ensembl
Outerchr11:46948386..46949270hg38UCSC Ensembl
Innerchr11:46970094..46970668hg19UCSC Ensembl
Outerchr11:46969937..46970821hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38885
hg19885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5505777, essv5884173, essv6456212
SamplesHG00325, HG00313, NA19776
Known GenesC11orf49
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675104
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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