A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6197422



Internal ID9125145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86421387..86425093hg38UCSC Ensembl
Outerchr8:86421016..86425463hg38UCSC Ensembl
Innerchr8:87433616..87437322hg19UCSC Ensembl
Outerchr8:87433245..87437692hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg384448
hg194448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658378
Supporting Variants
SamplesHG01140
Known GenesWWP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6197422
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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