A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13184498



Internal ID3186314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42332869..42336834hg38UCSC Ensembl
Innerchr8:42333019..42336684hg38UCSC Ensembl
Outerchr8:42332719..42336984hg38UCSC Ensembl
chr8:42190387..42194352hg19UCSC Ensembl
Innerchr8:42190537..42194202hg19UCSC Ensembl
Outerchr8:42190237..42194502hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg383966
hg193966
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617008
Supporting Variants
SamplesHG02076
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13184498
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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