A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14003268



Internal ID6101861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5226463..5234155hg38UCSC Ensembl
Innerchr11:5226613..5234005hg38UCSC Ensembl
Outerchr11:5226313..5234305hg38UCSC Ensembl
chr11:5247693..5255385hg19UCSC Ensembl
Innerchr11:5247843..5255235hg19UCSC Ensembl
Outerchr11:5247543..5255535hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg387693
hg197693
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625215
Supporting Variants
SamplesNA19475
Known GenesHBB, HBD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14003268
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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