A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11732428



Internal ID1734244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183655300..183661232hg38UCSC Ensembl
chr4:184576453..184582385hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385933
hg195933
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603445
Supporting Variants
SamplesHG03025
Known GenesRWDD4, TRAPPC11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11732428
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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