A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5316252



Internal ID8407987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70970588..70972248hg38UCSC Ensembl
Outerchr14:71437305..71438965hg19UCSC Ensembl
Outerchr14:70507058..70508718hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381661
hg191661
hg181661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2590666
Supporting Variants
SamplesNA18507
Known GenesPCNX
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)essv5316252
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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