A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13250023



Internal ID6586617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:87152111..87159627hg38UCSC Ensembl
Innerchr8:87152123..87159615hg38UCSC Ensembl
Outerchr8:87152099..87159639hg38UCSC Ensembl
chr8:88164339..88171855hg19UCSC Ensembl
Innerchr8:88164351..88171843hg19UCSC Ensembl
Outerchr8:88164327..88171867hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg387517
hg197517
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617919
Supporting Variants
SamplesNA20766
Known GenesCNBD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13250023
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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