A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11509762



Internal ID2704653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:78094995..78119960hg38UCSC Ensembl
chr4:79016149..79041114hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3824966
hg1924966
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601088
Supporting Variants
SamplesHG02389
Known GenesFRAS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11509762
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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