A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11871985



Internal ID1873801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38622860..38816266hg38UCSC Ensembl
chr5:38622962..38816368hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38193407
hg19193407
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604771
Supporting Variants
SamplesNA19309
Known GenesLIFR-AS1, LOC101926904
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11871985
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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