A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv209e214



Internal ID20121632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74225600..74828943hg38UCSC Ensembl
chr11:73936645..74539988hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38603344
hg19603344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3626839, esv3626834
SamplesHG00266, HG02634, NA19917, HG00403, NA18582, HG00142
Known GenesCHRDL2, KCNE3, LIPT2, MIR4696, P4HA3, PGM2L1, POLD3, PPME1, RNF169
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv209e214
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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