A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11517482



Internal ID1519298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:81132731..81133810hg38UCSC Ensembl
Innerchr4:81132764..81133778hg38UCSC Ensembl
Outerchr4:81132699..81133843hg38UCSC Ensembl
chr4:82053885..82054964hg19UCSC Ensembl
Innerchr4:82053918..82054932hg19UCSC Ensembl
Outerchr4:82053853..82054997hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601148
Supporting Variants
SamplesNA19114
Known GenesPRKG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11517482
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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