A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1231e214



Internal ID20122654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160246104..160313281hg38UCSC Ensembl
chr6:160667136..160734313hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3867178
hg1967178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3611434, esv3611433
SamplesNA20813, NA18953
Known GenesSLC22A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1231e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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