A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12038958



Internal ID2464538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120647389..120670752hg38UCSC Ensembl
chr5:119983084..120006447hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3823364
hg1923364
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606532
Supporting Variants
SamplesHG02178
Known GenesPRR16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12038958
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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