A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11521803



Internal ID4841397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:84538495..84542310hg38UCSC Ensembl
Innerchr4:84538495..84542310hg38UCSC Ensembl
Outerchr4:84538249..84542541hg38UCSC Ensembl
chr4:85459648..85463463hg19UCSC Ensembl
Innerchr4:85459648..85463463hg19UCSC Ensembl
Outerchr4:85459402..85463694hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg383816
hg193816
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601222
Supporting Variants
SamplesNA12155
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11521803
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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