A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11438610



Internal ID2862378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54572884..54624401hg38UCSC Ensembl
chr4:55439051..55490568hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3851518
hg1951518
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600543
Supporting Variants
SamplesHG02537
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11438610
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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