A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13267708



Internal ID4799268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100428452..100429677hg38UCSC Ensembl
Innerchr8:100428452..100429677hg38UCSC Ensembl
Outerchr8:100428236..100429861hg38UCSC Ensembl
chr8:101440680..101441905hg19UCSC Ensembl
Innerchr8:101440680..101441905hg19UCSC Ensembl
Outerchr8:101440464..101442089hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381226
hg191226
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618189
Supporting Variants
SamplesNA11932
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13267708
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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