A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13101683



Internal ID989291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:10319230..10349021hg38UCSC Ensembl
Innerchr8:10319274..10348977hg38UCSC Ensembl
Outerchr8:10319186..10349065hg38UCSC Ensembl
chr8:10176740..10206531hg19UCSC Ensembl
Innerchr8:10176784..10206487hg19UCSC Ensembl
Outerchr8:10176696..10206575hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3829792
hg1929792
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616223
Supporting Variants
SamplesHG00614
Known GenesMSRA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13101683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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