A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604845



Internal ID6645095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41473342..41576981hg38UCSC Ensembl
chr5:41473444..41577083hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38103640
hg19103640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11882006, essv11882007
SamplesNA12717, NA19038
Known GenesPLCXD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604845
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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