A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11516646



Internal ID6862609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:79935894..79966679hg38UCSC Ensembl
chr4:80857048..80887833hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3830786
hg1930786
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601129
Supporting Variants
SamplesNA21092
Known GenesANTXR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11516646
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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