A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11508292



Internal ID1510108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76524810..76532211hg38UCSC Ensembl
Innerchr4:76524826..76532196hg38UCSC Ensembl
Outerchr4:76524795..76532227hg38UCSC Ensembl
chr4:77445963..77453364hg19UCSC Ensembl
Innerchr4:77445979..77453349hg19UCSC Ensembl
Outerchr4:77445948..77453380hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg387402
hg197402
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601055
Supporting Variants
SamplesNA19102
Known GenesSHROOM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11508292
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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