A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6294102



Internal ID9259997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43479000..43482326hg38UCSC Ensembl
chr5:43479102..43482428hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383327
hg193327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2665243
Supporting Variants
SamplesNA12275
Known GenesC5orf28
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6294102
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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