A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14121380



Internal ID4123196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47740353..47741702hg38UCSC Ensembl
Innerchr11:47740353..47741702hg38UCSC Ensembl
Outerchr11:47739911..47742063hg38UCSC Ensembl
chr11:47761905..47763254hg19UCSC Ensembl
Innerchr11:47761905..47763254hg19UCSC Ensembl
Outerchr11:47761463..47763615hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381350
hg191350
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626207
Supporting Variants
SamplesNA18934
Known GenesFNBP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14121380
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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