A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11516648



Internal ID3092153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:79944001..79974335hg38UCSC Ensembl
chr4:80865155..80895489hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3830335
hg1930335
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601131
Supporting Variants
SamplesHG02716
Known GenesANTXR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11516648
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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