A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2600690



Internal ID3452518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23376744..23376805hg19UCSC Ensembl
chr16:23284245..23284306hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg1962
hg1862
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5332334
SamplesNA18507
Known GenesSCNN1B
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_med_del_12_500.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2600690
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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