A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13169154



Internal ID1102727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38548556..38550301hg38UCSC Ensembl
Innerchr8:38548556..38550301hg38UCSC Ensembl
Outerchr8:38548308..38550557hg38UCSC Ensembl
chr8:38406074..38407819hg19UCSC Ensembl
Innerchr8:38406074..38407819hg19UCSC Ensembl
Outerchr8:38405826..38408075hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg381746
hg191746
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616928
Supporting Variants
SamplesHG00734
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13169154
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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