A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13154934



Internal ID3563710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30538819..30539524hg38UCSC Ensembl
Innerchr8:30538827..30539516hg38UCSC Ensembl
Outerchr8:30538811..30539532hg38UCSC Ensembl
chr8:30396336..30397041hg19UCSC Ensembl
Innerchr8:30396344..30397033hg19UCSC Ensembl
Outerchr8:30396328..30397049hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616788
Supporting Variants
SamplesHG03157
Known GenesRBPMS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13154934
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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