A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2619552



Internal ID3453709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88859184..88860625hg19UCSC Ensembl
Outerchr14:87928937..87930378hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg19220
hg18220
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5263150
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)esv2619552
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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