A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11741570



Internal ID1164348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185522337..185560248hg38UCSC Ensembl
chr4:186443491..186481402hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3837912
hg1937912
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603506
Supporting Variants
SamplesHG01048
Known GenesPDLIM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11741570
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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