A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617873



Internal ID7004757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85172083..85176011hg38UCSC Ensembl
Innerchr8:85172102..85175992hg38UCSC Ensembl
Outerchr8:85172064..85176030hg38UCSC Ensembl
chr8:86084318..86088246hg19UCSC Ensembl
Innerchr8:86084337..86088227hg19UCSC Ensembl
Outerchr8:86084299..86088265hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg383929
hg193929
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13246013, essv13246015, essv13246014, essv13246016
SamplesHG03160, NA19452, NA19360, NA19430
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617873
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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