A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604753



Internal ID6645003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37854044..37997903hg38UCSC Ensembl
chr5:37854146..37998005hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38143860
hg19143860
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11871306
SamplesNA12717
Known GenesGDNF-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604753
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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