A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604690



Internal ID6644940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:34888087..34922212hg38UCSC Ensembl
chr5:34888192..34922317hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3834126
hg1934126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11867020
SamplesNA12717
Known GenesBRIX1, RAD1, TTC23L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604690
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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