A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617018



Internal ID6657214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42718300..42735379hg38UCSC Ensembl
Innerchr8:42718800..42734879hg38UCSC Ensembl
Outerchr8:42717300..42736379hg38UCSC Ensembl
chr8:42573443..42590522hg19UCSC Ensembl
Innerchr8:42573943..42590022hg19UCSC Ensembl
Outerchr8:42572443..42591522hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3817080
hg1917080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13185899, essv13185892, essv13185900, essv13185894, essv13185896, essv13185895, essv13185893, essv13185897, essv13185898, essv13185901
SamplesHG03120, HG00252, HG02549, HG03066, HG02887, HG03039, HG01551, NA20356, HG03052, HG02813
Known GenesCHRNB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617018
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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