A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625131



Internal ID6665282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2801019..2802697hg38UCSC Ensembl
Innerchr11:2801029..2802687hg38UCSC Ensembl
Outerchr11:2801009..2802707hg38UCSC Ensembl
chr11:2822249..2823927hg19UCSC Ensembl
Innerchr11:2822259..2823917hg19UCSC Ensembl
Outerchr11:2822239..2823937hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381679
hg191679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13993630
SamplesHG01882
Known GenesKCNQ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625131
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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