A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678358



Internal ID9597777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7371856..7373692hg38UCSC Ensembl
chr16:7421857..7423693hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381837
hg191837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5556552, essv5865117, essv5462461, essv5844812, essv6070949, essv6345557, essv5451445, essv5909855, essv6049431, essv6478414, essv5873258, essv6255539, essv5551771, essv6037622, essv5982077, essv6375207, essv5661133, essv5456642, essv5802826, essv6235496, essv5610301, essv5418001, essv6554192
SamplesHG00537, NA18530, NA18948, HG00475, NA18573, HG00479, NA18632, HG00421, NA18618, NA19066, HG00533, HG00620, NA19002, NA18558, NA18977, HG00525, NA18562, NA18606, NA19078, NA18538, NA18631, HG00473, HG00476
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678358
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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