A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2629108



Internal ID8692666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:115475510..115477132hg38UCSC Ensembl
Outerchr8:116487737..116489359hg19UCSC Ensembl
Outerchr8:116556913..116558535hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg381623
hg191623
hg181623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5244868
SamplesNA18507
Known GenesTRPS1
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)esv2629108
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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