A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667672



Internal ID9587091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16003382..16003894hg38UCSC Ensembl
chr16:16097239..16097751hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6266936, essv6565269, essv5918550, essv6533258, essv5507321, essv6438270, essv6325836, essv5871375
SamplesHG00096, NA12286, NA10851, NA11992, NA20340, HG01360, HG00276, HG01516
Known GenesABCC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667672
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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