A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604748



Internal ID6644998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37720912..37848930hg38UCSC Ensembl
chr5:37721014..37849032hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38128019
hg19128019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11871280
SamplesNA12717
Known GenesGDNF, GDNF-AS1, WDR70
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604748
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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