A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625129



Internal ID6665280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2715646..2718387hg38UCSC Ensembl
Innerchr11:2715650..2718383hg38UCSC Ensembl
Outerchr11:2715642..2718391hg38UCSC Ensembl
chr11:2736876..2739617hg19UCSC Ensembl
Innerchr11:2736880..2739613hg19UCSC Ensembl
Outerchr11:2736872..2739621hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382742
hg192742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13993628, essv13993627
SamplesNA19625, NA20274
Known GenesKCNQ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625129
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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