A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668625



Internal ID9934730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:6422929..6423271hg38UCSC Ensembl
Outerchr8:6422758..6423424hg38UCSC Ensembl
Innerchr8:6280450..6280792hg19UCSC Ensembl
Outerchr8:6280279..6280945hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38667
hg19667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5462376, essv6106271, essv6085835, essv6273477, essv5956737, essv5556416
SamplesNA19466, NA19383, NA19471, NA19440, NA19398, HG01125
Known GenesMCPH1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668625
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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