A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13203726



Internal ID6579251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55074899..55092554hg38UCSC Ensembl
Innerchr8:55074953..55092501hg38UCSC Ensembl
Outerchr8:55074846..55092608hg38UCSC Ensembl
chr8:55987459..56005114hg19UCSC Ensembl
Innerchr8:55987513..56005061hg19UCSC Ensembl
Outerchr8:55987406..56005168hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3817656
hg1917656
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617271
Supporting Variants
SamplesNA20763
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13203726
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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