A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2531934



Internal ID8595493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:95419641..95420117hg38UCSC Ensembl
Outerchr14:95885978..95886454hg19UCSC Ensembl
Outerchr14:94955731..94956207hg18UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38721
hg19721
hg18721
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5218745
SamplesNA18507
Known GenesSYNE3
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)esv2531934
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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