A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605433



Internal ID6992455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74684378..74705197hg38UCSC Ensembl
chr5:73980203..74001022hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3820820
hg1920820
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11945132
SamplesNA12749
Known GenesHEXB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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