A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13153656



Internal ID797133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29919111..29925745hg38UCSC Ensembl
Innerchr8:29919117..29925739hg38UCSC Ensembl
Outerchr8:29919105..29925751hg38UCSC Ensembl
chr8:29776627..29783261hg19UCSC Ensembl
Innerchr8:29776633..29783255hg19UCSC Ensembl
Outerchr8:29776621..29783267hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg386635
hg196635
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616779
Supporting Variants
SamplesHG00378
Known GenesFAM183CP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13153656
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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