A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625216



Internal ID7012051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5226569..5249609hg38UCSC Ensembl
chr11:5247799..5270839hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3823041
hg1923041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv183e214
Supporting Variantsessv14003270, essv14003271, essv14003272, essv14003273, essv14003269
SamplesHG00650, NA19378, NA19475, HG00672, HG00581
Known GenesHBB, HBBP1, HBD, HBG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625216
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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