A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2569672



Internal ID3353456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147460908..147462821hg19UCSC Ensembl
Outerchr5:147441101..147443014hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg19597
hg18597
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5245897
SamplesNA18507
Known GenesSPINK5
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2569672
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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