A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14182096



Internal ID4183912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62861292..62866965hg38UCSC Ensembl
Innerchr11:62861292..62866965hg38UCSC Ensembl
Outerchr11:62860792..62867465hg38UCSC Ensembl
chr11:62628764..62634437hg19UCSC Ensembl
Innerchr11:62628764..62634437hg19UCSC Ensembl
Outerchr11:62628264..62634937hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg385674
hg195674
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626615
Supporting Variants
SamplesNA20763
Known GenesSLC3A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14182096
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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