A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5779206



Internal ID8756609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:108451308..108451674hg38UCSC Ensembl
chr8:109463537..109463903hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2657475
Supporting Variants
SamplesNA19317
Known GenesEMC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5779206
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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