A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671857



Internal ID9591276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69175268..69175322hg38UCSC Ensembl
chr5:68471095..68471149hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6232792, essv6516902
SamplesNA12005, NA12045
Known GenesCCNB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671857
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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