A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617017



Internal ID6657213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42714283..42718475hg38UCSC Ensembl
Innerchr8:42714313..42718445hg38UCSC Ensembl
Outerchr8:42714253..42718505hg38UCSC Ensembl
chr8:42569426..42573618hg19UCSC Ensembl
Innerchr8:42569456..42573588hg19UCSC Ensembl
Outerchr8:42569396..42573648hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg384193
hg194193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13185888, essv13185890, essv13185886, essv13185891, essv13185884, essv13185889, essv13185883, essv13185887, essv13185885
SamplesHG02675, NA19310, NA19428, NA19384, HG02594, HG02807, NA19175, NA19025, HG02013
Known GenesCHRNB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617017
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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