A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606333



Internal ID6993269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114139043..114178772hg38UCSC Ensembl
chr5:113474740..113514469hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3839730
hg1939730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1128e214
Supporting Variantsessv12023701, essv12023703, essv12023702, essv12023704
SamplesHG01351, HG01668, HG02260, HG01251
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606333
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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