A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11457303



Internal ID5866236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:62650418..62652221hg38UCSC Ensembl
Innerchr4:62650418..62652221hg38UCSC Ensembl
Outerchr4:62650204..62652483hg38UCSC Ensembl
chr4:63516136..63517939hg19UCSC Ensembl
Innerchr4:63516136..63517939hg19UCSC Ensembl
Outerchr4:63515922..63518201hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg381804
hg191804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600708
Supporting Variants
SamplesNA19247
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11457303
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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