A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625128



Internal ID6665279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2624056..2629362hg38UCSC Ensembl
Innerchr11:2624063..2629355hg38UCSC Ensembl
Outerchr11:2624049..2629369hg38UCSC Ensembl
chr11:2645286..2650592hg19UCSC Ensembl
Innerchr11:2645293..2650585hg19UCSC Ensembl
Outerchr11:2645279..2650599hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg385307
hg195307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13993625, essv13993626
SamplesHG03653, HG02682
Known GenesKCNQ1, KCNQ1OT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625128
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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