A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13136794



Internal ID6696118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24308855..24312163hg38UCSC Ensembl
Innerchr8:24308895..24312123hg38UCSC Ensembl
Outerchr8:24308815..24312203hg38UCSC Ensembl
chr8:24166368..24169676hg19UCSC Ensembl
Innerchr8:24166408..24169636hg19UCSC Ensembl
Outerchr8:24166328..24169716hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg383309
hg193309
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616651
Supporting Variants
SamplesNA20822
Known GenesADAM28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13136794
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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