A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11679779



Internal ID4852849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:165081412..165083890hg38UCSC Ensembl
Innerchr4:165081499..165083840hg38UCSC Ensembl
Outerchr4:165081119..165084183hg38UCSC Ensembl
chr4:166002564..166005042hg19UCSC Ensembl
Innerchr4:166002651..166004992hg19UCSC Ensembl
Outerchr4:166002271..166005335hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg382479
hg192479
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603015
Supporting Variants
SamplesNA12273
Known GenesTMEM192
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11679779
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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