A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617363



Internal ID7004248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59832392..59833402hg38UCSC Ensembl
Innerchr8:59832439..59833355hg38UCSC Ensembl
Outerchr8:59832345..59833449hg38UCSC Ensembl
chr8:60744951..60745961hg19UCSC Ensembl
Innerchr8:60744998..60745914hg19UCSC Ensembl
Outerchr8:60744904..60746008hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13208895
SamplesHG02398
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617363
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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