A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5386380



Internal ID8478115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14935279..14939821hg38UCSC Ensembl
Outerchr19:15046091..15050633hg19UCSC Ensembl
Outerchr19:14907091..14911633hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg384543
hg194543
hg184543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2508789
Supporting Variants
SamplesNA18507
Known Genes
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)essv5386380
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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