A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13253695



Internal ID3255511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:89944739..89951257hg38UCSC Ensembl
Innerchr8:89944789..89951207hg38UCSC Ensembl
Outerchr8:89944685..89951311hg38UCSC Ensembl
chr8:90956967..90963485hg19UCSC Ensembl
Innerchr8:90957017..90963435hg19UCSC Ensembl
Outerchr8:90956913..90963539hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg386519
hg196519
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617988
Supporting Variants
SamplesHG02661
Known GenesNBN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13253695
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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