A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1135e214



Internal ID22757029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123203986..123211050hg38UCSC Ensembl
chr5:122539680..122546744hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg387065
hg197065
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3606598, esv3606599
SamplesNA20897
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1135e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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