A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617171



Internal ID7004057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50390047..50394172hg38UCSC Ensembl
Innerchr8:50390076..50394143hg38UCSC Ensembl
Outerchr8:50390018..50394201hg38UCSC Ensembl
chr8:51302607..51306732hg19UCSC Ensembl
Innerchr8:51302636..51306703hg19UCSC Ensembl
Outerchr8:51302578..51306761hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg384126
hg194126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13197456
SamplesHG01840
Known GenesSNTG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617171
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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