A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13270991



Internal ID4079095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102691757..102695186hg38UCSC Ensembl
Innerchr8:102691907..102695036hg38UCSC Ensembl
Outerchr8:102691607..102695336hg38UCSC Ensembl
chr8:103703985..103707414hg19UCSC Ensembl
Innerchr8:103704135..103707264hg19UCSC Ensembl
Outerchr8:103703835..103707564hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg383430
hg193430
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618233
Supporting Variants
SamplesHG03709
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13270991
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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