A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12158596



Internal ID3194736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181242253..181283113hg38UCSC Ensembl
chr5:180669253..180710114hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3840861
hg1940862
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607829
Supporting Variants
SamplesHG02807
Known GenesGNB2L1, SNORD95, TRIM52, TRIM52-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12158596
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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