A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657353



Internal ID9576772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30677311..30679064hg38UCSC Ensembl
chr8:30534828..30536581hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381754
hg191754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5930204
SamplesHG00500
Known GenesGSR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657353
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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