A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11528412



Internal ID4139163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88323281..88325025hg38UCSC Ensembl
Innerchr4:88323315..88324991hg38UCSC Ensembl
Outerchr4:88323247..88325059hg38UCSC Ensembl
chr4:89244433..89246177hg19UCSC Ensembl
Innerchr4:89244467..89246143hg19UCSC Ensembl
Outerchr4:89244399..89246211hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg381745
hg191745
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601301
Supporting Variants
SamplesHG03750
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11528412
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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