A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1092e214



Internal ID22756986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35492183..35566745hg38UCSC Ensembl
chr5:35492285..35566847hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3874563
hg1974563
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3604705, esv3604706
SamplesNA12717, NA18877, NA19457, NA19430
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1092e214
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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