A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668436



Internal ID9934541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67263073..67263486hg38UCSC Ensembl
chr16:67296976..67297389hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6246409, essv6208427, essv6453918, essv6328818, essv6502534, essv5729564
SamplesHG01359, HG00323, HG00154, NA12716, HG00734, HG00319
Known GenesSLC9A5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668436
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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