A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666579



Internal ID9932684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28486488..28487523hg38UCSC Ensembl
chr8:28344005..28345040hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5907400, essv6353456, essv6131777, essv6368936, essv5762654, essv6415802, essv6086664, essv5944008, essv5667907, essv5506121, essv5406973, essv6111008
SamplesHG00114, NA12842, NA12340, NA12399, HG01492, HG00264, HG01095, HG00321, HG00111, HG00312, NA20582, NA11892
Known GenesFBXO16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666579
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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