A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13993617



Internal ID3995433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2536619..2537705hg38UCSC Ensembl
Innerchr11:2536743..2537570hg38UCSC Ensembl
Outerchr11:2536463..2537861hg38UCSC Ensembl
chr11:2557849..2558935hg19UCSC Ensembl
Innerchr11:2557973..2558800hg19UCSC Ensembl
Outerchr11:2557693..2559091hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625127
Supporting Variants
SamplesHG03563
Known GenesKCNQ1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13993617
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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