A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2437559



Internal ID3282931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71889772..71889899hg19UCSC Ensembl
chr2:71743280..71743407hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg19128
hg18128
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5183219
SamplesNA18507
Known GenesDYSF
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_med_del_12_500.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2437559
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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