A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13192588



Internal ID4834875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48076609..48117945hg38UCSC Ensembl
Innerchr8:48077109..48117445hg38UCSC Ensembl
Outerchr8:48075609..48118945hg38UCSC Ensembl
chr8:48989169..49030505hg19UCSC Ensembl
Innerchr8:48989669..49030005hg19UCSC Ensembl
Outerchr8:48988169..49031505hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3841337
hg1941337
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617111
Supporting Variants
SamplesNA12144
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13192588
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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