A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2530664



Internal ID8247536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:87925382..87926877hg38UCSC Ensembl
Outerchr10:89685139..89686634hg19UCSC Ensembl
Outerchr10:89675119..89676614hg18UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg381496
hg191496
hg181496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5284362
SamplesNA18507
Known GenesPTEN
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)esv2530664
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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