A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617170



Internal ID7004056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50353161..50372422hg38UCSC Ensembl
Innerchr8:50353166..50372417hg38UCSC Ensembl
Outerchr8:50353156..50372427hg38UCSC Ensembl
chr8:51265721..51284982hg19UCSC Ensembl
Innerchr8:51265726..51284977hg19UCSC Ensembl
Outerchr8:51265716..51284987hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3819262
hg1919262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1397e214
Supporting Variantsessv13197454, essv13197455
SamplesNA18602, HG02756
Known GenesSNTG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617170
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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