A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5250893



Internal ID7995942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:63420286..63421850hg38UCSC Ensembl
Outerchr14:63887004..63888568hg19UCSC Ensembl
Outerchr14:62956757..62958321hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg381565
hg191565
hg181565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2533003
Supporting Variants
SamplesNA18507
Known GenesPPP2R5E
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)essv5250893
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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