A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2552740



Internal ID8616298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:66341090..66342827hg38UCSC Ensembl
Outerchr15:66633428..66635165hg19UCSC Ensembl
Outerchr15:64420482..64422219hg18UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg381738
hg191738
hg181738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5223278
SamplesNA18507
Known GenesTIPIN
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)esv2552740
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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