A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13090595



Internal ID2098791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8331077..8335018hg38UCSC Ensembl
Innerchr8:8331077..8335018hg38UCSC Ensembl
Outerchr8:8330813..8335281hg38UCSC Ensembl
chr8:8188593..8192534hg19UCSC Ensembl
Innerchr8:8188593..8192534hg19UCSC Ensembl
Outerchr8:8188329..8192797hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383942
hg193942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616132
Supporting Variants
SamplesHG01914
Known GenesSGK223
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13090595
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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