A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14043371



Internal ID4045187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18584522..18600409hg38UCSC Ensembl
Innerchr11:18585022..18599909hg38UCSC Ensembl
Outerchr11:18583522..18601409hg38UCSC Ensembl
chr11:18606069..18621956hg19UCSC Ensembl
Innerchr11:18606569..18621456hg19UCSC Ensembl
Outerchr11:18605069..18622956hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3815888
hg1915888
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625506
Supporting Variants
SamplesHG01131
Known GenesSPTY2D1-AS1, UEVLD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14043371
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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