A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13186027



Internal ID3187843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:43065451..43066458hg38UCSC Ensembl
Innerchr8:43065463..43066446hg38UCSC Ensembl
Outerchr8:43065439..43066470hg38UCSC Ensembl
chr8:42920594..42921601hg19UCSC Ensembl
Innerchr8:42920606..42921589hg19UCSC Ensembl
Outerchr8:42920582..42921613hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381008
hg191008
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617025
Supporting Variants
SamplesHG02890
Known GenesFNTA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13186027
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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