A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2565595



Internal ID8282467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101884889..101885728hg38UCSC Ensembl
Outerchr14:102351226..102352065hg19UCSC Ensembl
Outerchr14:101420979..101421818hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38349
hg19349
hg18349
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5177938
SamplesNA18507
Known GenesPPP2R5C
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)esv2565595
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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