A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12030560



Internal ID4166014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:116314197..116381855hg38UCSC Ensembl
chr5:115649894..115717552hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3867659
hg1967659
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606399
Supporting Variants
SamplesHG03770
Known GenesLOC101927190
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12030560
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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