A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1102e214



Internal ID22756996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60414325..60479881hg38UCSC Ensembl
chr5:59710152..59775708hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3865557
hg1965557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3605187, esv3605188
SamplesNA11830, HG00115, NA12348, HG00260
Known GenesPDE4D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1102e214
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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