A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11508277



Internal ID4987088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76361660..76363957hg38UCSC Ensembl
Innerchr4:76361678..76363939hg38UCSC Ensembl
Outerchr4:76361642..76363975hg38UCSC Ensembl
chr4:77282813..77285110hg19UCSC Ensembl
Innerchr4:77282831..77285092hg19UCSC Ensembl
Outerchr4:77282795..77285128hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg382298
hg192298
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601052
Supporting Variants
SamplesNA18488
Known GenesCCDC158
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11508277
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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