A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2476340



Internal ID3316331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189575318..189576862hg19UCSC Ensembl
Outerchr3:191058012..191059556hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg19374
hg18374
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5260607
SamplesNA18507
Known GenesTP63
Method
Analysis
PlatformAB SOLiD 2BE Sequencing
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2476340
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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