A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2555448



Internal ID8272320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51989642..51990577hg38UCSC Ensembl
Outerchr6:51854440..51855375hg19UCSC Ensembl
Outerchr6:51962399..51963334hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38228
hg19228
hg18228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5176589
SamplesNA18507
Known GenesPKHD1
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)esv2555448
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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