A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664758



Internal ID9584177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:2536695..2537725hg38UCSC Ensembl
Outerchr11:2536658..2537775hg38UCSC Ensembl
Innerchr11:2557925..2558955hg19UCSC Ensembl
Outerchr11:2557888..2559005hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381118
hg191118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5556765, essv5472089, essv5857202, essv6260779, essv5675778, essv5697173
SamplesNA19210, NA18505, NA19172, NA18486, NA19315, NA19448
Known GenesKCNQ1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664758
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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