A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678163



Internal ID9944268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40397763..40401106hg38UCSC Ensembl
chr6:40365502..40368845hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg383344
hg193344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5921590, essv5785534, essv6580836, essv5703480, essv6162190, essv5895946, essv5498233, essv5889970, essv5508385, essv6429746, essv6339537, essv6089881, essv6163248, essv6065547, essv6088256, essv6495317, essv6012409, essv5793611, essv6477458
SamplesNA12400, HG00346, HG01365, HG00311, HG00325, HG00323, HG00253, NA19921, NA12489, HG00266, HG00732, HG00275, HG00373, HG01383, HG00321, HG00140, HG00342, NA11843, HG01097
Known GenesLRFN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678163
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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