A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13169157



Internal ID3170973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38598438..38603313hg38UCSC Ensembl
Innerchr8:38598438..38603313hg38UCSC Ensembl
Outerchr8:38597938..38603813hg38UCSC Ensembl
chr8:38455956..38460831hg19UCSC Ensembl
Innerchr8:38455956..38460831hg19UCSC Ensembl
Outerchr8:38455456..38461331hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg384876
hg194876
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616929
Supporting Variants
SamplesHG02505
Known GenesRNF5P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13169157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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