A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625217



Internal ID7012052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5227161..5249125hg38UCSC Ensembl
Innerchr11:5227161..5249125hg38UCSC Ensembl
Outerchr11:5226661..5249625hg38UCSC Ensembl
chr11:5248391..5270355hg19UCSC Ensembl
Innerchr11:5248391..5270355hg19UCSC Ensembl
Outerchr11:5247891..5270855hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3821965
hg1921965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv183e214
Supporting Variantsessv14003274, essv14003276, essv14003275
SamplesNA19378, NA19035, NA19475
Known GenesHBBP1, HBD, HBG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625217
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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