A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5387672



Internal ID8132721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113841428..113846204hg38UCSC Ensembl
Outerchr13:114544401..114549177hg19UCSC Ensembl
Outerchr13:113564766..113569542hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg384777
hg194777
hg184777
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2493664
Supporting Variants
SamplesNA18507
Known GenesGAS6, GAS6-AS1
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5387672
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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