A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14197400



Internal ID4199216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67139805..67149822hg38UCSC Ensembl
Innerchr11:67139809..67149819hg38UCSC Ensembl
Outerchr11:67139802..67149826hg38UCSC Ensembl
chr11:66907276..66917293hg19UCSC Ensembl
Innerchr11:66907280..66917290hg19UCSC Ensembl
Outerchr11:66907273..66917297hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3810018
hg1910018
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626707
Supporting Variants
SamplesHG01684
Known GenesKDM2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14197400
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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