A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2568808



Internal ID3339426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88889232..88890717hg19UCSC Ensembl
Outerchr14:87958985..87960470hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg19246
hg18246
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5212233
SamplesNA18507
Known GenesSPATA7
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2568808
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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