A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11326097



Internal ID3427902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4543982..4553020hg38UCSC Ensembl
Innerchr4:4543982..4553020hg38UCSC Ensembl
Outerchr4:4543906..4553067hg38UCSC Ensembl
chr4:4545709..4554747hg19UCSC Ensembl
Innerchr4:4545709..4554747hg19UCSC Ensembl
Outerchr4:4545633..4554794hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg389039
hg199039
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599463
Supporting Variants
SamplesHG03063
Known GenesSTX18-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11326097
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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