A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv175e214



Internal ID18980350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:851409..1043855hg38UCSC Ensembl
chr11:851409..1043855hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38192447
hg19192447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3625083, esv3625085
SamplesHG03363, HG00251, HG03830
Known GenesAP2A2, CHID1, MUC6, TSPAN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv175e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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