A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13129027



Internal ID3093006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17893457..17895004hg38UCSC Ensembl
Innerchr8:17893457..17895004hg38UCSC Ensembl
Outerchr8:17893282..17895296hg38UCSC Ensembl
chr8:17750966..17752513hg19UCSC Ensembl
Innerchr8:17750966..17752513hg19UCSC Ensembl
Outerchr8:17750791..17752805hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381548
hg191548
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616505
Supporting Variants
SamplesHG02721
Known GenesFGL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13129027
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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