A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674311



Internal ID9593730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144561851..144562764hg38UCSC Ensembl
Outerchr8:144561814..144562814hg38UCSC Ensembl
Innerchr8:145787235..145788148hg19UCSC Ensembl
Outerchr8:145787198..145788198hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6141263, essv6255490, essv6113350, essv6586462, essv6106724, essv6490677
SamplesNA19248, NA19093, NA19474, HG00421, NA19384, NA18510
Known GenesARHGAP39
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674311
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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