A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2530577



Internal ID8247449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8856802..8857181hg38UCSC Ensembl
Outerchr17:8760119..8760498hg19UCSC Ensembl
Outerchr17:8700844..8701223hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38863
hg19863
hg18863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5258559
SamplesNA18507
Known GenesPIK3R6
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)esv2530577
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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