A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13236977



Internal ID4249131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:77712325..77850893hg38UCSC Ensembl
Innerchr8:77712327..77850891hg38UCSC Ensembl
Outerchr8:77712323..77850895hg38UCSC Ensembl
chr8:78624561..78763128hg19UCSC Ensembl
Innerchr8:78624563..78763126hg19UCSC Ensembl
Outerchr8:78624559..78763130hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38138569
hg19138568
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617722
Supporting Variants
SamplesHG03821
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13236977
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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