A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11527642



Internal ID1529458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87455460..87496054hg38UCSC Ensembl
Innerchr4:87455460..87496054hg38UCSC Ensembl
Outerchr4:87454960..87496554hg38UCSC Ensembl
chr4:88376612..88417206hg19UCSC Ensembl
Innerchr4:88376612..88417206hg19UCSC Ensembl
Outerchr4:88376112..88417706hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3840595
hg1940595
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601278
Supporting Variants
SamplesHG03240
Known GenesNUDT9, SPARCL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11527642
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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