A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13279284



Internal ID4244553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:107492557..107494161hg38UCSC Ensembl
Innerchr8:107492557..107494161hg38UCSC Ensembl
Outerchr8:107492218..107494486hg38UCSC Ensembl
chr8:108504785..108506389hg19UCSC Ensembl
Innerchr8:108504785..108506389hg19UCSC Ensembl
Outerchr8:108504446..108506714hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381605
hg191605
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618330
Supporting Variants
SamplesHG03815
Known GenesANGPT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13279284
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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