A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2568346



Internal ID8631904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:91208968..91210604hg38UCSC Ensembl
Outerchr10:92968725..92970361hg19UCSC Ensembl
Outerchr10:92958705..92960341hg18UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg381637
hg191637
hg181637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5185409
SamplesNA18507
Known GenesPCGF5
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)esv2568346
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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