A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11429528



Internal ID6709522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:48476093..48478417hg38UCSC Ensembl
Innerchr4:48476107..48478403hg38UCSC Ensembl
Outerchr4:48476079..48478431hg38UCSC Ensembl
chr4:48478110..48480434hg19UCSC Ensembl
Innerchr4:48478124..48480420hg19UCSC Ensembl
Outerchr4:48478096..48480448hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg382325
hg192325
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600465
Supporting Variants
SamplesNA20845
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11429528
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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