A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5177938



Internal ID7922987
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 StatusS
Merged Variantsesv2565595
Supporting Variants
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)essv5177938
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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